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Our Tests
What genetic conditions do we test for?
Eugene’s carrier tests only include serious and actionable conditions.
1. Serious genetic conditions
Conditions that impact a child’s life expectancy or development and have limited treatment options.
2. Results are actionable
The knowledge of being a carrier can open up reproductive options, including using IVF to avoid passing on the condition.
3. Relevant to everyone
With screening options ranging from 3 to over 780+ genes, our tests are relevant for people of all ethnicities & backgrounds.
Details for clinicians —
These tests include:
- All conditions recommended by the Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG), the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG).
- Medicare rebate available for eligible patients that require testing under Core Carrier Screening or Couples Carrier Screening.
- Actionable results; we do not report on variants of unknown significance
- Severe and prevalent conditions seen across all ethnicities
- Reports can be issued for an individual and also together as a couple in a combined couples report.
- Genetic counsellor and geneticist analysis, interpretation and support included with every test.
There are two types of conditions on Eugene’s carrier tests:
1. Recessive conditions
Recessive conditions cover the majority of conditions that are on the test. Carriers of recessive conditions are completely healthy and show no signs of the condition. However, if both parents are carriers of the same condition, there’s a one in four chance that their children would have the condition.
A couple of important things to note are that most people are carriers of one or more genetic conditions; And most children born with a recessive condition showed no family history of it.
2. X-linked conditions
For x-linked conditions the sex of the parent who passes on the variant influences the risk for the children. They are generally passed on from carrier mothers and more commonly affect boys.
If the mum is a healthy carrier and they have a son, there is a 50% chance that the child could be affected by the condition. If they have a daughter, there is a a 50% chance that they will be a healthy carrier — like her mum. At Eugene only females are screened for x-linked conditions.
Compare our carrier tests
Core
From $0
- 3 genes screened
- 2 recessive conditions
- 1 X-linked conditions
- ~1 in 20 (5%) chance that a female will have a positive result for CF, SMA or FXS.
- 1 in 240 couples will be at high risk
- 20% of at-risk couples will be picked up by this test
- Individuals
- 1 test
- Individual report
- Medicare available
- Free genetic counselling
- Free standard return shipping
- Results in 4 - 6 weeks
Couples
$895
- 629 genes screened
- 559 recessive conditions
- 70 X-linked conditions
- No individual carrier results will be reported outside of CF, SMA and FXS for females
- 1 in 50 (~ 2%) couples will receive a high risk result
- >80% of at risk couples will be picked up by this test
- For couples
- 2 tests, 1 report
- Combined carrier status
- Medicare available
- Free genetic counselling
- Free standard return shipping
- Results in 9 - 12 weeks
Comprehensive
From $949
- 787 genes screened
- 714 recessive conditions
- 73 X-linked conditions
- ~80% of individuals are a carrier
- ~1 in 35 couples will receive a high risk result
- >90% of at risk couples will be picked up by this test
- Individuals, couples, donors
- 2 tests
- Combined couples report
- Individual carrier status report
- Free genetic counselling
- Free express return shipping
- Results ready in 4 - 6 weeks
Full list of conditions tested
* X-Linked Conditions
| Gene | Condition | ||
|---|---|---|---|
| Core Carrier Screening | Comprehensive Carrier Screening | CFTR | Cystic fibrosis |
| FMR1 | Fragile X syndrome* | ||
| SMN1 | Spinal muscular atrophy | ||
| AAAS | Achalasia-addisonianism-alacrimia syndrome | ||
| ABCA12 | Congenital ichthyosis, ABCA12- related | ||
| ABCA3 | Surfactant metabolism dysfunction, pulmonary 3 | ||
| ABCA4 | Stargardt disease | ||
| ABCB11 | Progressive familial intrahepatic cholestasis | ||
| ABCB4 | Progressive familial intrahepatic cholestasis | ||
| ABCC8 | Familial hyperinsulinism | ||
| ABCD1 | Adrenoleukodystrophy* | ||
| ABCD4 | Methylmalonic aciduria and homocystinuria, cblJ type | ||
| ACAD9 | Acyl-CoA dehydrogenase-9 (ACAD9) deficiency | ||
| ACADM | Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency | ||
| ACADS | Short-chain acyl-coA dehydrogenase (SCAD) deficiency | ||
| ACADSB | Short branched chain acyl-CoA dehydrogenase (SBCAD) deficiency | ||
| ACADVL | Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency | ||
| ACAT1 | 3-ketothiolase deficiency | ||
| ACOX1 | Peroxisomal acyl-CoA oxidase deficiency | ||
| ACSF3 | Combined malonic and methylmalonic aciduria | ||
| ADA | Adenosine deaminase deficiency | ||
| ADAMTS2 | Ehlers-Danlos syndrome, dermatosparaxis type | ||
| ADGRG1 | Bilateral frontoparietal polymicrogyria | ||
| ADGRV1 | Usher syndrome, type IIC | ||
| ADK | Hypermethioninemia due to adenosine kinase deficiency | ||
| AFF2 | Fragile XE syndrome* | ||
| AGA | Aspartylglucosaminuria | ||
| AGL | Glycogen storage disease type III | ||
| AGPAT2 | Congenital generalized lipodystrophy, type 1 | ||
| AGPS | Rhizomelic chondrodysplasia punctata, type 3 | ||
| AGXT | Primary hyperoxaluria type 1 | ||
| AHCY | Hypermethioninemia due to deficiency of S-adenosylhomocysteine hydrolase | ||
| AHI1 | Joubert syndrome, AHI1-related | ||
| AIMP1 | Hypomyelinating leukodystrophy 3 | ||
| AIPL1 | Childhood-onset severe retinal dystrophy, AIPL1-related | ||
| AIRE | Autoimmune polyendocrinopathy syndrome type I | ||
| AK2 | Reticular dysgenesis | ||
| AKR1D1 | Congenital Bile Acid Synthesis Defect 2 | ||
| ALDH3A2 | Sjogren-Larsson syndrome | ||
| ALDH4A1 | Hyperprolinemia type II | ||
| ALDH7A1 | Pyridoxine-dependent epilepsy | ||
| ALDOB | Hereditary fructose intolerance | ||
| ALG1 | Congenital disorder of glycosylation type Ik | ||
| ALG12 | Congenital disorder of glycosylation type Ig | ||
| ALG3 | Congenital disorder of glycosylation type Id | ||
| ALG6 | Congenital disorder of glycosylation type Ic | ||
| ALMS1 | Alstrom syndrome | ||
| ALOX12B | Autosomal recessive, congenital, ichthyosis 2 | ||
| ALOXE3 | Congenital ichthyosiform erythroderma | ||
| ALPL | Hypophosphatasia | ||
| AMH | Persistent mullerian duct syndrome, type I | ||
| AMHR2 | Persistent mullerian duct syndrome, type II | ||
| AMN | Megaloblastic anemia 1 | ||
| AMPD2 | Pontocerebellar hypoplasia type 9 | ||
| AMT | Glycine encephalopathy | ||
| ANO10 | Spinocerebellar ataxia 10 | ||
| ANO5 | Limb girdle muscular dystrophy, type 2L | ||
| ANTXR2 | Hyaline fibromatosis syndrome | ||
| AP1S1 | MEDNIK syndrome | ||
| AP1S2 | X-linked Intellectual disability, AP1S2-related* | ||
| AP3B1 | Hermansky-Pudlak syndrome 2 | ||
| AP3D1 | Hermansky-Pudlak syndrome 10 | ||
| APOPT1 | Mitochondrial complex IV deficiency | ||
| AQP2 | Nephrogenic diabetes insipidus* | ||
| AR | Androgen insensitivity syndrome | ||
| ARG1 | Arginase deficiency | ||
| ARL13B | Joubert syndrome, ARL13B-related | ||
| ARL6 | ARL6-related disorders | ||
| ARSA | Metachromatic leukodystrophy | ||
| ARSB | Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) | ||
| ARSE | Chondrodysplasia punctata type 1* | ||
| ARX | X-linked intellectual disability, ARX-related* | ||
| ASL | Argininosuccinate lyase deficiency | ||
| ASNS | Asparagine synthetase deficiency | ||
| ASPA | Canavan disease | ||
| ASS1 | Citrullinemia | ||
| ATM | Ataxia-telangiectasia | ||
| ATP13A2 | Kufor-Rakeb syndrome | ||
| ATP6V0A2 | Cutis laxa, type IIA | ||
| ATP6V0A4 | Renal tubular acidosis | ||
| ATP6V1B1 | Renal tubular acidosis with deafness | ||
| ATP6V1E1 | Cutis laxa, type IIC | ||
| ATP7A | Menkes disease* | ||
| ATP7B | Wilson disease | ||
| ATP8B1 | Progressive familial intrahepatic cholestasis | ||
| ATRX | Alpha thalassemia X-linked intellectual disability syndrome* | ||
| AVPR2 | Nephrogenic diabetes insipidus | ||
| B9D1 | Joubert syndrome 27 | ||
| B9D2 | Meckel syndrome 10 | ||
| BBS1 | Bardet-Biedl syndrome type 1 | ||
| BBS10 | Bardet-Biedl syndrome type 10 | ||
| BBS12 | Bardet-Biedl syndrome type 12 | ||
| BBS2 | BBS2-related ciliopathies | ||
| BBS4 | Bardet-Biedl syndrome 4 | ||
| BBS5 | Bardet-Biedl syndrome 5 | ||
| BBS7 | Bardet-Biedl syndrome 7 | ||
| BBS9 | Bardet-Biedl syndrome 9 | ||
| BCHE | Butyrylcholinesterase deficiency | ||
| BCKDHA | Maple syrup urine disease type Ia | ||
| BCKDHB | Maple syrup urine disease type Ib | ||
| BCS1L | Mitochondrial complex III deficiency | ||
| BLM | Bloom syndrome | ||
| BLOC1S3 | Hermansky-Pudlak syndrome 8 | ||
| BLOC1S6 | Hermansky-Pudlak syndrome 9 | ||
| BMP1 | Osteogenesis imperfecta, type XIII | ||
| BMPER | Diaphanospondylodysostosis | ||
| BRIP1 | Fanconi anemia group J | ||
| BRWD3 | X-linked intellectual disability, BRWD3-related* | ||
| BSND | Bartter syndrome | ||
| BTD | Biotinidase deficiency | ||
| BTK | X-linked agammaglobulinemia* | ||
| C19orf12 | Mitochondrial membrane protein- associated neurodegeneration | ||
| C8orf37 | Bardet-Biedl Syndrome 21 | ||
| CAD | Early Infantile Epileptic Encephalopathy 50 | ||
| CANT1 | Desbuquois dysplasia 1 | ||
| CAPN3 | Limb-girdle muscular dystrophy type 2A | ||
| CASP14 | Congenital Ichthyosis 12 | ||
| CASQ2 | Catecholaminergic polymorphic ventricular tachycardia | ||
| CASR | Neonatal hyperparathyroidism | ||
| CAVIN1 | Congenital Generalized Lipodystrophy 4 | ||
| CBS | Homocystinuria due to cystathionine beta-synthase deficiency | ||
| CC2D1A | Autosomal recessive intellectual developmental disorder 3 | ||
| CC2D2A | Joubert syndrome 9 | ||
| CCDC103 | Primary ciliary dyskinesia, type 17 | ||
| CCDC151 | Primary ciliary dyskinesia, type 30 | ||
| CCDC39 | Primary ciliary dyskinesia, type 14 | ||
| CCDC8 | 3-M Syndrome | ||
| CCDC88C | Congenital hydrocephalus 1 | ||
| CD247 | Severe Combined Immunodeficiency | ||
| CD3D | Severe Combined Immunodeficiency | ||
| CD3E | Severe Combined Immunodeficiency | ||
| CD3G | Severe Combined Immunodeficiency | ||
| CD40LG | Hyper IgM syndrome* | ||
| CD59 | CD59 deficiency | ||
| CD8A | Familial CD8 Deficiency | ||
| CDAN1 | Dyserythropoietic congenital anemia, type Ia | ||
| CDCA7 | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | ||
| CDH23 | Usher syndrome, type 1D | ||
| CEP104 | Joubert syndrome 25 | ||
| CEP152 | CEP152-related disorders | ||
| CEP290 | CEP290-related Ciliopathies | ||
| CERKL | Retinitis pigmentosa 26 | ||
| CERS3 | Congenital ichthyosis 9 | ||
| CHAT | Congenital myasthenic syndrome 6 | ||
| CHM | Choroideremia* | ||
| CHMP1A | Pontocerebellar hypoplasia type 8 | ||
| CHRNE | Congenital myasthenic syndrome | ||
| CHRNG | Multiple pterygium syndrome | ||
| CHST6 | Macular corneal dystrophy, | ||
| CIB2 | Nonsyndromic hearing loss 48 | ||
| CIITA | Bare lymphocyte syndrome, type II | ||
| CLCF1 | Crisponi cold-induced sweating | ||
| CLCN1 | Autosomal recessive congenital | ||
| CLCN5 | Dent disease* | ||
| CLCNKB | Bartter syndrome | ||
| CLN3 | Neuronal ceroid lipofuscinosis | ||
| CLN5 | Neuronal ceroid lipofuscinosis 5 | ||
| CLN6 | Neuronal ceroid lipofuscinosis, | ||
| CLN8 | Neuronal ceroid lipofuscinosis, CLN8-related | ||
| CLP1 | Pontocerebellar hypoplasia type 10 | ||
| CLRN1 | Usher syndrome, type 3A | ||
| CNGA1 | Retinitis Pigmentosa, CNGA1-related | ||
| CNGA3 | CNGA3-related retinopathy | ||
| CNGB1 | Retinitis Pigmentosa, CNGB1-related | ||
| CNGB3 | Achromatopsia (CNGB3-related) | ||
| CNTNAP2 | Cortical dysplasia-focal epilepsy syndrome | ||
| COASY | Pontocerebellar hypoplasia type 12 | ||
| COL11A2 | COL11A2-related disorders | ||
| COL17A1 | Junctional epidermolysis bullosa | ||
| COL27A1 | Steel syndrome | ||
| COL4A3 | Alport syndrome, COL4A3-related | ||
| COL4A4 | Alport syndrome, COL4A4-related | ||
| COL4A5 | Alport syndrome, COL4A5-related* | ||
| COL7A1 | Dystrophic epidermolysis bullosa | ||
| COLQ | Congenital myasthenic syndrome 5 | ||
| COQ4 | Primary Coenzyme Q10 deficiency 7 | ||
| CORO1A | Immunodeficiency 8 | ||
| COX10 | Mitochondrial complex IV deficiency | ||
| COX15 | Mitochondrial complex IV deficiency | ||
| COX20 | Mitochondrial complex IV deficiency | ||
| COX6B1 | Mitochondrial complex IV deficiency | ||
| CP | Aceruloplasminemia | ||
| CPLANE1 | Joubert syndrome 17 | ||
| CPS1 | Carbamoylphosphate synthetase I deficiency | ||
| CPT1A | Carnitine palmitoyltransferase IA deficiency | ||
| CPT2 | Carnitine palmitoyltransferase II deficiency | ||
| CRADD | Intellectual developmental disorder with variant lissencephaly | ||
| CRB1 | CRB1-related retinopathy | ||
| CRLF1 | Crisponi cold-induced sweating syndrome 1 | ||
| CRTAP | Osteogenesis imperfecta, type VII | ||
| CTC1 | Cerebroretinal microangiopathy with calcifications and cysts 1 | ||
| CTNS | Cystinosis | ||
| CTSA | Galactosialidosis | ||
| CTSC | Papillon-Lefevre syndrome | ||
| CTSD | Neuronal ceroid lipofuscinosis, CTSD-related | ||
| CTSF | Neuronal ceroid lipofuscinosis 13 | ||
| CTSK | Pycnodysostosis | ||
| CUL4B | X-linked intellectual disability, CUL4B-related* | ||
| CUL7 | Three M syndrome 1 | ||
| CWC27 | Retinitis pigmentosa with or without skeletal anomalies | ||
| CYBA | Chronic granulomatous disease | ||
| CYBB | Chronic granulomatous disease* | ||
| CYP11A1 | Congenital adrenal insufficiency | ||
| CYP11B1 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | ||
| CYP11B2 | Corticosterone methyloxidase deficiency | ||
| CYP17A1 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | ||
| CYP19A1 | Aromatase deficiency | ||
| CYP1B1 | Primary congenital glaucoma | ||
| CYP21A2 | Congenital adrenal hyperplasia due to 21-hydroxylase deficiency | ||
| CYP27A1 | Cerebrotendinous xanthomatosis | ||
| CYP27B1 | Vitamin D–dependent rickets, type 1 | ||
| CYP4F22 | Congenital ichthyosis 5 | ||
| CYP7B1 | Congenital bile acid synthesis defect 3 | ||
| DBT | Maple syrup urine disease, type II | ||
| DCAF17 | Woodhouse-Sakati syndrome | ||
| DCLRE1C | Severe combined immunodeficiency with sensitivity to ionizing radiation | ||
| DCX | Lissencephaly* | ||
| DDB2 | Xeroderma pigmentosum, group E | ||
| DDC | Aromatic l-amino acid decarboxylase deficiency | ||
| DDR2 | Spondylometaepiphyseal dysplasia | ||
| DDX11 | Warsaw breakage syndrome | ||
| DGUOK | Mitochondrial DNA depletion syndrome 3 | ||
| DHCR24 | Desmosterolosis | ||
| DHCR7 | Smith-Lemli-Opitz syndrome | ||
| DHDDS | Retinitis pigmentosa 59 | ||
| DKC1 | X-linked dyskeratosis congenita* | ||
| DLAT | Pyruvate dehydrogenase E2 deficiency | ||
| DLD | Dihydrolipoamide dehydrogenase deficiency | ||
| DLG3 | X-linked intellectual disability, DLG3-related* | ||
| DLL3 | Spondylocostal dysostosis 1 | ||
| DMD | Dystrophinopathies* | ||
| DNAH5 | Primary ciliary dyskinesia, DNAH5-related | ||
| DNAI1 | Primary ciliary dyskinesia, DNAI1-related | ||
| DNAI2 | Primary ciliary dyskinesia, DNAI2-related | ||
| DNAL1 | Primary ciliary dyskinesia, DNAL1-related | ||
| DNMT3B | ICF Syndrome | ||
| DOCK8 | Hyper-IgE syndrome due to DOCK8 defiency | ||
| DOK7 | Congenital myasthenic syndrome, DOK7-related | ||
| DOLK | Congenital disorder of glycosylation type Im | ||
| DPYD | Dihydropyrimidine dehydrogenase deficiency | ||
| DTNBP1 | Hermansky-Pudlak syndrome 7 | ||
| DUOX2 | Congenital hypothyroidism, DUOX2- related | ||
| DUOXA2 | Congenital hypothyroidism, DUOXA2-related | ||
| DYNC2H1 | Short-rib thoracic dysplasia 3 with or without polydactyly | ||
| DYSF | Limb-girdle muscular dystrophy type 2B | ||
| EDA | Hypohidrotic ectodermal dysplasia* | ||
| EFEMP2 | Cutis laxa, type 1B | ||
| EIF2AK3 | Wolcott-Rallison Syndrome | ||
| EIF2B1 | Leukoencephalopathy with vanishing white matter | ||
| EIF2B2 | Leukoencephalopathy with vanishing white matter | ||
| EIF2B3 | Leukoencephalopathy with vanishing white matter | ||
| EIF2B4 | Leukoencephalopathy with vanishing white matter | ||
| EIF2B5 | Leukoencephalopathy with vanishing white matter | ||
| ELP1 | Familial Dysautonomia | ||
| EMD | Emery-Dreifuss muscular dystrophy* | ||
| EPB42 | Spherocytosis, type 5 | ||
| ERBB3 | Familial visceral neuropathy type 1 | ||
| ERCC2 | ERCC2-related disorders | ||
| ERCC3 | ERCC3-related photosensitivity | ||
| ERCC4 | ERCC4-related disorders | ||
| ERCC5 | Xeroderma Pigmentosa, group G | ||
| ERCC6 | ERCC6-related disorders | ||
| ERCC8 | Cockayne syndrome type A | ||
| ESCO2 | Roberts syndrome | ||
| ETFA | Glutaric aciduria IIA | ||
| ETFB | Glutaric aciduria IIB | ||
| ETFDH | Glutaric aciduria IIC | ||
| ETHE1 | Ethylmalonic encephalopathy | ||
| EVC | EVC-related bone growth disorders | ||
| EVC2 | EVC2-related bone growth disorders | ||
| EXOSC3 | Pontocerebellar hypoplasia type 1B | ||
| EYS | Retinitis pigmentosa 25 | ||
| F11 | Factor XI deficiency | ||
| F2 | Prothrombin-related conditions | ||
| F5 | Factor V deficiency | ||
| F7 | Factor VII deficiency | ||
| F8 | Hemophilia A* | ||
| F9 | Hemophilia B* | ||
| FA2H | Spastic paraplegia type 35 | ||
| FAH | Tyrosinemia, type 1 | ||
| FAM126A | Hypomyelinating leukodystropy type 5 | ||
| FAM161A | Retinitis pigmentosa 28 | ||
| FANCA | Fanconi anemia group A | ||
| FANCB | Fanconi anemia group B* | ||
| FANCC | Fanconi anemia group C | ||
| FANCD2 | Fanconi anemia, group D2 | ||
| FANCE | Fanconi anemia, group E | ||
| FANCF | Fanconi anemia, group F | ||
| FANCG | Fanconi anemia group G | ||
| FANCI | Fanconi anemia, group I | ||
| FANCL | Fanconi anemia, group L | ||
| FBP1 | Fructose-1,6-bisphosphatase deficiency | ||
| FBXL4 | Mitochondrial DNA depletion syndrome 13 | ||
| FGD1 | X-linked Aarskog-Scott syndrome* | ||
| FH | Fumarase deficiency | ||
| FHL1 | FHL1-related neuromuscular disorders* | ||
| FKBP10 | Osteogenesis imperfecta type XI | ||
| FKRP | FKRP Alpha-dystroglycanopathies | ||
| FKTN | FKTN Alpha-dystroglycanopathies | ||
| FMO3 | Trimethylaminuria | ||
| FMR1 | Fragile X Syndrome Intermediate Allele * | ||
| Fragile X Syndrome Premutation* | |||
| Fragile X Syndrome Full Mutation* | |||
| FOLR1 | Cerebral folate deficiency | ||
| FOXN1 | T-cell immunodeficiency with thymic aplasia | ||
| FOXP3 | IPEX syndrome* | ||
| FOXRED1 | Mitochondrial complex I deficiency | ||
| FRAS1 | Fraser syndrome | ||
| FREM2 | Fraser syndrome | ||
| FTCD | Glutamate formiminotransferase deficiency | ||
| FTSJ1 | X-linked intellectual disability, FTSJ1-related* | ||
| FUCA1 | Fucosidosis | ||
| FXN | Friedreich ataxia | ||
| G6PC | Glycogen storage disease, type 1a | ||
| G6PC3 | Severe congenital neutropenia 4 | ||
| G6PD | Glucose-6-phosphate dehydrogenase deficiency* | ||
| GAA | Pompe disease | ||
| GALC | Krabbe disease | ||
| GALE | Galactose epimerase deficiency | ||
| GALK1 | Galactokinase deficiency | ||
| GALNS | Mucopolysaccharidosis IVA (Morquio syndrome A) | ||
| GALNT3 | Familial hyperphosphatemic tumoral calcinosis | ||
| GALT | Galactosemia | ||
| GAMT | Guanidinoacetate methyltransferase deficiency | ||
| GATM | Cerebral creatine deficiency syndrome 3 | ||
| GBA | Gaucher disease | ||
| GBE1 | Glycogen storage disease IV | ||
| GCDH | Glutaric aciduria, type I | ||
| GDAP1 | Charcot-Marie-Tooth disease, GDAP1-related | ||
| GDF5 | Du Pan Syndrome | ||
| GFM1 | Combined oxidative phosphorylation deficiency, GFM1-related | ||
| GFPT1 | Congenital myasthenic syndrome 12 | ||
| GHR | Growth hormone insensitivity syndrome | ||
| GHRHR | Isolated growth hormone deficiency, type 1B | ||
| GJB1 | Charcot-Marie-Tooth disease, X-linked type 1* | ||
| GJB2 | Nonsyndromic hearing loss 1A | ||
| GJB6 | GJB6-CRYL1 related nonsyndromic hearing loss | ||
| GLA | Fabry disease* | ||
| GLB1 | GLB1-related gangliosidoses | ||
| GLDC | Glycine encephalopathy, GLDC-related | ||
| GLE1 | Lethal congenital contracture syndrome 1 | ||
| GNE | Inclusion body myopathy type 2 (Nonaka myopathy) | ||
| GNPAT | Rhizomelic chondrodysplasia punctata, type 2 | ||
| GNPTAB | Mucolipidosis II & III | ||
| GNPTG | Mucolipidosis III gamma | ||
| GNRHR | Hypogonadotropic hypogonadism, GNRHR-related | ||
| GNS | Mucopolysaccharidosis IIID (Sanfilippo syndrome D) | ||
| GORAB | Geroderma osteodysplasticum | ||
| GP1BA | Bernard-Soulier syndrome type A1 | ||
| GP9 | Bernard-Soulier syndrome type C | ||
| GPR143 | X-linked Ocular albinism, GPR143-related* | ||
| GRHPR | Primary hyperoxaluria type II | ||
| GRIP1 | Fraser syndrome | ||
| GSS | Glutathione synthetase deficiency | ||
| GUCY2D | Leber congenital amaurosis 1 | ||
| GUSB | Mucopolysaccharidosis type VII | ||
| GYS2 | Glycogen storage disease, type 0, liver | ||
| HADH | Familial hyperinsulinemic hypoglycemia 4 | ||
| HADHA | Trifunctional protein deficiency | ||
| HADHB | Trifunctional protein deficiency | ||
| HAMP | Hemochromatosis, type 2B | ||
| HAX1 | Severe congenital neutropenia, HAX1-related | ||
| HBA1 | Alpha thalassemia | ||
| HBA2 | Alpha thalassemia | ||
| HBB | Sickle cell disease | ||
| HBB | Hemoglobin C disease | ||
| HBB | Beta thalassemia | ||
| HCFC1 | Methylmalonic acidemia with homocystinuria, type cblX* | ||
| HELLS | Immunodeficiency, Centromeric region instability, Facial anomalies syndrome | ||
| HEXA | Tay-Sachs disease | ||
| HEXB | Sandhoff disease | ||
| HFE | Hereditary Hemochromatosis | ||
| HGD | Alkaptonuria | ||
| HGSNAT | Mucopolysaccharidosis type IIIC (Sanfilippo syndrome C) | ||
| HINT1 | Neuromyotonia and axonal neuropathy | ||
| HJV | Hemochromatosis, type 2A | ||
| HLCS | Holocarboxylase synthetase deficiency | ||
| HMGCL | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | ||
| HMGCS2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency | ||
| HOGA1 | Primary hyperoxaluria type III | ||
| HPD | Tyrosinemia type III | ||
| HPS1 | Hermansky-Pudlak syndrome 1 | ||
| HPS3 | Hermansky-Pudlak syndrome 3 | ||
| HPS4 | Hermansky-Pudlak syndrome 4 | ||
| HPS5 | Hermansky-Pudlak syndrome 5 | ||
| HPS6 | Hermansky-Pudlak syndrome 6 | ||
| HSD17B10 | HSD10 mitochondrial disease* | ||
| HSD17B3 | 17-Beta-Hydroxysteroid Dehydrogenase Deficiency | ||
| HSD17B4 | D-bifunctional protein deficiency | ||
| HSD3B2 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | ||
| HSD3B7 | Congenital bile acid synthesis defect 1 | ||
| HYAL1 | Mucopolysaccharidosis type IX | ||
| HYLS1 | Hydrolethalus syndrome | ||
| IDH3B | Retinitis pigmentosa, IDH3B-related | ||
| IDS | Mucopolysaccharidosis type II (Hunter syndrome)* | ||
| IDUA | Mucopolysaccharidosis, type I (Hurler syndrome) | ||
| IFT140 | IFT140-related disorders | ||
| IGHMBP2 | IGHMBP2-related neuropathies | ||
| IGSF1 | X-linked central hypothyroidism and testicular enlargement* | ||
| IKBKB | Immunodeficiency 15B | ||
| IL1RAPL1 | X-linked intellectual disability, IL1RAPL1-related* | ||
| IL2RA | Immunodeficiency due to CD25 deficiency | ||
| IL2RG | X-linked severe combined immunodeficiency* | ||
| IL7R | Severe Combined Immunodeficiency 104 | ||
| INPP5E | Joubert syndrome 1 | ||
| INVS | Nephronophthisis 2 | ||
| ITGA2B | Glanzmann thrombasthenia | ||
| ITGA6 | Junctional epidermolysis bullosa | ||
| ITGB3 | Glanzmann thrombasthenia | ||
| ITGB4 | Junctional epidermolysis bullosa | ||
| ITPA | Developmental and epileptic encephalopathy 35 | ||
| IVD | Isovaleric Acidemia | ||
| IYD | Thyroid dyshormonogenesis, IYD-related | ||
| JAK3 | Severe combined immunodeficiency, JAK3-related | ||
| KCNJ1 | Bartter syndrome | ||
| KCNJ11 | KCNJ11-related hyperinsulinism | ||
| KCTD7 | Progressive myoclonic epilepsy type 3 | ||
| KDM5C | X-linked intellectual disability, KDM5C-related* | ||
| KIF14 | Primary Autosomal Recessive Microcephaly 20 | ||
| L1CAM | L1 syndrome* | ||
| LAMA2 | Muscular dystrophy, LAMA2-related | ||
| LAMA3 | Junctional epidermolysis bullosa 2 | ||
| LAMB3 | Junctional epidermolysis bullosa, LAMB3-related | ||
| LAMC2 | Junctional epidermolysis bullosa, LAMC2-related | ||
| LARS | Infantile liver failure syndrome 1 | ||
| LCA5 | Leber congenital amaurosis 5 | ||
| LCK | Immunodeficiency 22 | ||
| LDLR | Familial Hypercholesterolemia | ||
| LDLRAP1 | Familial Hypercholesterolemia | ||
| LHCGR | Leydig cell hypoplasia | ||
| LHX3 | Combined pituitary hormone deficiency 3 | ||
| LIFR | Stuve-Wiedemann syndrome | ||
| LIG4 | LIG4 syndrome | ||
| LIPA | Lysosomal acid lipase deficiency | ||
| LIPN | Congenital Ichthyosis 8 | ||
| LMAN1 | Combined factor V and VIII deficiency | ||
| LMBRD1 | Methylmalonic aciduria and homocystinuria, cblF type | ||
| LOXHD1 | Nonsyndromic hearing loss 77 | ||
| LPAR6 | Hypotrichosis 8 | ||
| LPL | Familial lipoprotein lipase deficiency | ||
| LRAT | Leber congenital amaurosis 14 | ||
| LRP2 | Donnai–Barrow syndrome | ||
| LRPPRC | Leigh syndrome with Complex IV deficiency | ||
| LTBP4 | Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | ||
| LYST | Chediak-Higashi syndrome | ||
| MAK | Retinitis Pigmentosa 62 | ||
| MALT1 | Immunodeficiency 12 | ||
| MAN2B1 | Alpha-Mannosidosis | ||
| MANBA | Beta-Mannosidosis | ||
| MAT1A | Methionine adenosyltransferase deficiency | ||
| MCCC1 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency (3-MCC deficiency) | ||
| MCCC2 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency (3-MCC deficiency) | ||
| MCEE | Methylmalonyl-CoA epimerase deficiency | ||
| MCOLN1 | Mucolipidosis IV | ||
| MCPH1 | Primary microcephaly 1, recessive | ||
| MED17 | Postnatal Progressive Microcephaly with Seizures and Brain Atrophy | ||
| MEFV | Familial Mediterranean fever | ||
| MEGF8 | Carpenter syndrome 2 | ||
| MESP2 | Spondylocostal dysostosis | ||
| MFSD8 | Neuronal ceroid lipofuscinosis, MFSD8-related | ||
| MID1 | Opitz GBBB syndrome, type I* | ||
| MKKS | Bardet-Biedl syndrome 6 | ||
| MKS1 | MKS1-related ciliopathies | ||
| MLC1 | Megalencephalic leukoencephalopathy with subcortical cysts | ||
| MLYCD | Malonyl-CoA decarboxylase deficiency | ||
| MMAA | Methylmalonic aciduria, cblA type | ||
| MMAB | Methylmalonic aciduria, cblB type | ||
| MMACHC | Methylmalonic aciduria and homocystinuria, cblC type | ||
| MPI | Congenital disorder of glycosylation type Ib | ||
| MPL | Congenital amegakaryocytic thrombocytopenia | ||
| MPV17 | Hepatocerebral mitochondrial DNA depletion syndrome, MPV17-related | ||
| MRE11 | Ataxia-Telangiectasia-Like Disorder 1 | ||
| MTHFD1 | Combined immunodeficiency and megaloblastic anemia | ||
| MTHFR | Homocystinuria, MTHFR-related | ||
| MTM1 | Myotubular myopathy* | ||
| MTMR2 | Charcot-Marie-Tooth disease, type 4B1 | ||
| MTR | Methylcobalamin deficiency, type cblG | ||
| MTRR | Homocystinuria-megaloblastic anemia, cobalamin E type | ||
| MTTP | Abetalipoproteinemia | ||
| MUT | Methylmalonic aciduria– methylmalonyl–CoA mutase deficiency | ||
| MVK | Mevalonate kinase deficiency | ||
| MYO15A | Nonsyndromic hearing loss, MYO15A-related | ||
| MYO7A | MYO7A-related disorders | ||
| NAGA | Schindler disease types 1 and 3 | ||
| NAGLU | Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B) | ||
| NAGS | N-acetylglutamate synthase deficiency | ||
| NBAS | SOPH syndrome | ||
| NBEAL2 | Gray platelet syndrome | ||
| NBN | Nijmegen breakage syndrome | ||
| NCF2 | Chronic granulomatous disease 2 | ||
| NCF4 | Chronic granulomatous disease 4 | ||
| NDP | Norrie disease* | ||
| NDRG1 | Charcot-Marie-Tooth disease, type 4D | ||
| NDUFA11 | Mitochondrial complex I deficiency | ||
| NDUFAF2 | Mitochondrial complex I deficiency | ||
| NDUFAF5 | Mitochondrial complex I deficiency (Leigh syndrome) | ||
| NDUFS4 | Mitochondrial complex I deficiency | ||
| NDUFS6 | Mitochondrial complex I deficiency (Leigh syndrome) | ||
| NDUFS7 | Mitochondrial complex I deficiency | ||
| NDUFV1 | Mitochondrial complex I deficiency, nuclear type 4 | ||
| NEB | Nemaline myopathy | ||
| NEU1 | Sialidosis, type I and II | ||
| NGLY1 | Congenital disorder of deglycosylation | ||
| NHEJ1 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | ||
| NIPAL4 | Autosomal Recessive Congenital Ichthyosis 6 | ||
| NONO | X-linked intellectual disability syndrome 34* | ||
| NPC1 | Niemann-Pick disease, type C1 | ||
| NPC2 | Niemann-Pick disease, type C2 | ||
| NPHP1 | NPHP1-related ciliopathies | ||
| NPHP3 | NPHP3-related ciliopathies | ||
| NPHS1 | Congenital nephrotic syndrome, type 1 1 | ||
| NPHS2 | Congenital nephrotic syndrome, type 2 | ||
| NR0B1 | Congenital adrenal hypoplasia* | ||
| NR2E3 | NR2E3-related retinal dystrophies | ||
| NTRK1 | Congenital insensitivity to pain with anhidrosis | ||
| OAT | Gyrate atrophy of choroid and retina | ||
| OBSL1 | 3M syndrome 2 | ||
| OCA2 | Oculocutaneous albinism type II | ||
| OCRL | OCRL-related disoders* | ||
| OPA3 | Costeff syndrome | ||
| OPHN1 | X-linked intellectual disability- cerebellar hypoplasia syndrome* | ||
| OSTM1 | Osteopetrosis 5 | ||
| OTC | Ornithine transcarbamylase deficiency* | ||
| OTOF | Nonsyndromic hearing loss, OTOF- related | ||
| P3H1 | Osteogenesis imperfecta, type VIII | ||
| PAH | Phenylketonuria (PKU | ||
| PAK3 | X-linked intellectual disability, PAK3- related* | ||
| PANK2 | Pantothenate kinase-associated | ||
| PC | Pyruvate carboxylase deficiency | ||
| PCBD1 | Tetrahydrobiopterin deficiency, | ||
| PCCA | Propionic acidemia, PCCA-related | ||
| PCCB | Propionic acidemia, PCCB-related | ||
| PCDH15 | PCDH15-related sensory loss | ||
| PCNT | Microcephalic osteodysplastic | ||
| PDE6A | Retinitis pigmentosa, PDE6A-related | ||
| PDHA1 | Pyruvate dehydrogenase E1-alpha deficiency* | ||
| PDHB | Pyruvate dehydrogenase E1-beta | ||
| PDHX | Pyruvate dehydrogenase E3-binding | ||
| PDP1 | Pyruvate dehydrogenase phosphatase | ||
| PEPD | Prolidase deficiency | ||
| PET100 | Mitochondrial complex IV deficiency | ||
| PEX1 | Zellweger syndrome, PEX1-related | ||
| PEX10 | Zellweger syndrome, PEX10-related | ||
| PEX11B | Zellweger spectrum disorder | ||
| PEX12 | Zellweger syndrome, PEX12-related | ||
| PEX13 | Zellweger spectrum disorder | ||
| PEX14 | Zellweger spectrum disorder | ||
| PEX16 | Zellweger spectrum disorder | ||
| PEX19 | Zellweger spectrum disorder | ||
| PEX2 | Zellweger syndrome, PEX2-related | ||
| PEX26 | Zellweger syndrome | ||
| PEX3 | Zellweger spectrum disorder | ||
| PEX5 | Zellweger spectrum disorder | ||
| PEX6 | Zellweger syndrome, PEX6-related | ||
| PEX7 | Rhizomelic chondrodysplasia punctata, type 1 | ||
| PFKM | Glycogen storage disease VII | ||
| PGK1 | Phosphoglycerate kinase 1 deficiency* | ||
| PGM3 | Immunodeficiency 23 | ||
| PHF8 | X-linked intellectual disability, Siderius type* | ||
| PHGDH | Phosphoglycerate dehydrogenase deficiency | ||
| PHKA1 | Glycogen storage disease type IXd* | ||
| PHKA2 | Glycogen storage disease type IXa* | ||
| PHKB | Glycogen storage disease type IXb | ||
| PHKG2 | Glycogen storage disease type IXc | ||
| PHYH | Refsum disease | ||
| PIGN | Multiple congenital anomalies hypotonia seizures syndrome 1 | ||
| PIP5K1C | Lethal congenital contractural syndrome 3 | ||
| PJVK | Nonsyndromic hearing loss 59 | ||
| PKHD1 | Polycystic kidney disease, PKHD1- related | ||
| PLA2G6 | Infantile neuroaxonal dystrophy | ||
| PLEKHG5 | PLEKHG5-related motor neuropathies | ||
| PLOD1 | Ehlers-Danlos syndrome with kyphoscoliosis, PLOD1-related | ||
| PLOD2 | Bruck syndrome 2 | ||
| PLP1 | PLP1-related disorders* | ||
| PMM2 | Congenital disorder of glycosylation type 1a | ||
| PNP | Purine nucleoside phosphorylase deficiency | ||
| PNPLA1 | Autosomal recessive congenital ichthyosis 10 | ||
| PNPO | Pyridoxamine 5’-phosphate oxidase deficiency | ||
| POC1A | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome | ||
| POLG | POLG-related disorders | ||
| POLH | Xeroderma pigmentosum | ||
| POLR1C | POLR1C-related disorders | ||
| POMGNT1 | POMGNT1 Alpha- dystroglycanopathies | ||
| POMT1 | POMT1 Alpha-dystroglycanopathies | ||
| POMT2 | POMT2 Alpha-dystroglycanopathies | ||
| POR | Antley-Bixler syndrome | ||
| POU1F1 | Combined pituitary hormone deficiency | ||
| POU3F4 | X-linked hearing loss, POU3F4- related* | ||
| PPIB | Osteogenesis imperfecta, type IX | ||
| PPT1 | Neuronal ceroid lipofuscinosis, PPT1-related | ||
| PQBP1 | Renpenning syndrome* | ||
| PRCD | Retinitis pigmentosa 36 | ||
| PRDM5 | Brittle cornea syndrome 2 | ||
| PRF1 | Hemophagocytic lymphohistiocytosis, familial, 2 | ||
| PRICKLE1 | Progressive myoclonic epilepsy, type 1B | ||
| PRKDC | PRKDC-related immunodeficiency | ||
| PROP1 | Combined pituitary hormone deficiency 2 | ||
| PRPS1 | PRPS1-related disorders* | ||
| PSAP | Metachromatic leukodystrophy due to saposin-b deficiency | ||
| PTPRC | PTPRC related-severe combined immunodeficiency | ||
| PTS | Tetrahydrobiopterin deficiency | ||
| PUS1 | Mitochondrial myopathy and sideroblastic anemia 1 | ||
| PYCR1 | Cutis laxa type IIB and type IIIB | ||
| PYGL | Glycogen storage disease VI | ||
| PYGM | Glycogen storage disease type V | ||
| QDPR | Tetrahydrobiopterin deficiency, QDPR-related | ||
| RAB23 | Carpenter syndrome | ||
| RAG1 | Omenn syndrome, RAG1-related | ||
| RAG2 | Omenn syndrome, RAG2-related | ||
| RAPSN | RAPSN-associated acetylcholine receptor deficiency | ||
| RARS2 | Pontocerebellar hypoplasia type 6 | ||
| RAX | Microphthalmia, isolated 3 | ||
| RD3 | Leber congenital amaurosis 12 | ||
| RDH12 | Leber congenital amaurosis type 13 | ||
| RDH5 | Fundus albipunctatus | ||
| RFX5 | Bare lymphocyte syndrome type II | ||
| RFXANK | MHC class II deficiency | ||
| RFXAP | Bare lymphocyte syndrome type II | ||
| RHAG | Rh Deficiency syndrome | ||
| RLBP1 | Retinal dystrophy, RLBP1-related | ||
| RMRP | Cartilage-Hair Hypoplasia Anauxetic Dysplasia Spectrum Disorder | ||
| RNASEH2A | Aicardi-Goutieres syndrome 4 | ||
| RNASEH2B | Aicardi Goutieres syndrome 2 | ||
| RNASEH2C | Aicardi-Goutieres syndrome 3 | ||
| ROGDI | Kohlschutter-Tonz syndrome | ||
| RP2 | X-linked Retinitis pigmentosa, RP2-related* | ||
| RPE65 | RPE65-related retinopathy | ||
| RPGR | X-linked Retinitis pigmentosa, RPGR-related* | ||
| RPGRIP1 | Leber congenital amaurosis and Cone-rod dystrophy | ||
| RPGRIP1L | RPGRIP1L-related ciliopathies | ||
| RS1 | Juvenile retinoschisis* | ||
| RSPH9 | Primary ciliary dyskinesia 12 | ||
| RTEL1 | Dyskeratosis congenita type 5 | ||
| SACS | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | ||
| SAG | Retinitis pigmentosa 47 | ||
| SAMD9 | Normophosphatemic Familial Tumoral Calcinosis | ||
| SAMHD1 | Aicardi-Goutieres syndrome | ||
| SARS2 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | ||
| SBDS | Shwachman-Diamond syndrome | ||
| SCO1 | Mitochondrial complex IV deficiency | ||
| SCO2 | Mitochondrial complex IV deficiency | ||
| SDCCAG8 | Bardet-Biedl syndrome and Senior-Loken syndrome | ||
| SDR9C7 | Autosomal recessive congenital ichthyosis | ||
| SEC23B | Congenital dyserythropoietic anemia, type II | ||
| SELENON | Rigid spine muscular dystrophy | ||
| SEPSECS | Pontocerebellar hypoplasia type 2D | ||
| SERPINA1 | Alpha-1 antitrypsin deficiency | ||
| SERPINF1 | Osteogenesis imperfecta, type VI | ||
| SGCA | Limb-girdle muscular dystrophy, type 2D | ||
| SGCB | Limb-girdle muscular dystrophy, type 2E | ||
| SGCD | Limb-girdle muscular dystrophy, type 2F | ||
| SGCG | Limb-girdle muscular dystrophy, type 2C | ||
| SGSH | Mucopolysaccharidosis IIIA (Sanfilippo syndrome A) | ||
| SH3TC2 | Charcot-Marie-Tooth disease, SH3TC2-related | ||
| SKIV2L | Trichohepatoenteric syndrome 2 | ||
| SLC12A1 | Bartter syndrome | ||
| SLC12A3 | Gitelman syndrome | ||
| SLC12A6 | Andermann syndrome | ||
| SLC16A2 | Allan-Herndon-Dudley syndrome* | ||
| SLC17A5 | Sialic acid storage disorder | ||
| SLC19A2 | Thiamine-responsive megaloblastic anemia syndrome | ||
| SLC19A3 | Biotin-responsive basal ganglia disease | ||
| SLC1A4 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly syndrome | ||
| SLC22A5 | Systemic primary carnitine deficiency | ||
| SLC25A13 | Citrin deficiency | ||
| SLC25A15 | Hyperornithinemia- hyperammonemia-homocitrullinemia syndrome (Triple H syndrome) | ||
| SLC25A20 | Carnitine-acylcarnitine translocase deficiency | ||
| SLC26A2 | SLC26A2-related disorders | ||
| SLC26A3 | Congenital secretory chloride diarrhea | ||
| SLC26A4 | Pendred syndrome | ||
| SLC27A4 | Ichthyosis prematurity syndrome | ||
| SLC2A10 | Arterial tortuosity syndrome | ||
| SLC2A2 | Fanconi-Bickel syndrome | ||
| SLC34A3 | Hereditary hypophosphatemic rickets with hypercalciuria | ||
| SLC35A3 | Arthrogryposis, intellectual disability, and seizures | ||
| SLC37A4 | Glycogen storage disease, type Ib | ||
| SLC39A4 | Acrodermatitis enteropathica | ||
| SLC3A1 | Cystinuria, type I | ||
| SLC45A2 | Oculocutaneous albinism, type IV | ||
| SLC46A1 | Hereditary folate malabsorption | ||
| SLC4A1 | Distal Renal Tubular Acidosis | ||
| SLC4A11 | Corneal endothelial dystrophy | ||
| SLC5A5 | Thyroid dyshormonogenesis, SLC5A5-related | ||
| SLC6A19 | Hartnup disorder | ||
| SLC6A8 | Creatine deficiency syndrome* | ||
| SLC7A7 | Lysinuric protein intolerance | ||
| SLC7A9 | Cystinuria, non-type I | ||
| SMARCAL1 | Schimke immunoosseous dysplasia | ||
| Spinal muscular atrophy silent carrier | |||
| SMPD1 | Niemann-Pick disease, type A/B | ||
| SNAP29 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | ||
| SNX10 | Osteopetrosis 8 | ||
| SP110 | Hepatic venoocclusive disease with immunodeficiency | ||
| SPATA7 | Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) | ||
| SPG11 | SPG11-related Neuromuscular Disorders | ||
| SPG21 | Mast syndrome | ||
| SPG7 | Spastic paraplegia type 7 | ||
| SPINK5 | Netherton syndrome | ||
| SPR | Sepiapterin Reductase Deficiency | ||
| SRD5A2 | 5-alpha reductase deficiency | ||
| ST3GAL5 | Salt and pepper developmental regression syndrome | ||
| STAR | Lipoid congenital adrenal hyperplasia | ||
| STK4 | Combined immunodeficiency due to STK4 deficiency | ||
| STX11 | Familial hemophagocytic lymphohistiocytosis | ||
| STXBP2 | Familial hemophagocytic lymphohistiocytosis | ||
| SUCLA2 | Mitochondrial DNA depletion syndrome 5 | ||
| SUMF1 | Multiple sulfatase deficiency | ||
| SUOX | Sulfite oxidase deficiency | ||
| SURF1 | Leigh syndrome, SURF1-related | ||
| SYN1 | X-linked epilepsy with variable learning disabilities* | ||
| SYNE4 | Autosomal recessive deafness 76 | ||
| TAT | Tyrosinemia, type II | ||
| TAZ | Barth syndrome* | ||
| TBCE | Hypoparathyroidism-retardation- dysmorphism syndrome | ||
| TBX19 | Adrenocorticotropic hormone deficiency | ||
| TCIRG1 | Osteopetrosis 1 | ||
| TCTN1 | Joubert syndrome 13 | ||
| TCTN2 | TCTN2-related ciliopathies | ||
| TCTN3 | Joubert syndrome 18 | ||
| TECPR2 | Spastic paraplegia 49 | ||
| TERT | Dyskeratosis congenita type 4 | ||
| TF | Atransferrinemia | ||
| TFR2 | Hemochromatosis, type 3 | ||
| TG | Thyroid dyshormonogenesis, TG- related | ||
| TGM1 | Congenital ichthyosis | ||
| TH | Segawa syndrome | ||
| THOC2 | X-linked Intellectual disability, THOC2-related* | ||
| TK2 | Mitochondrial DNA depletion syndrome 2 | ||
| TMC1 | Nonsyndromic hearing loss 7 | ||
| TMEM138 | Joubert syndrome 16 | ||
| TMEM216 | TMEM216-related ciliopathies | ||
| TMEM231 | Joubert syndrome 20 | ||
| TMEM237 | Joubert syndrome 14 | ||
| TMEM38B | Osteogenesis imperfecta, type XIV | ||
| TMEM67 | COACH syndrome | ||
| TMEM70 | Mitochondrial complex V deficiency type 2 | ||
| TMPRSS3 | Nonsyndromic hearing loss, TMPRSS3-related | ||
| TNFSF11 | Osteopetrosis 2 | ||
| TNXB | Ehlers–Danlos-like syndrome due to tenascin-X deficiency | ||
| TPO | Thyroid dyshormonogenesis, TPO- related | ||
| TPP1 | Neuronal ceroid lipofuscinosis, TPP1- related | ||
| TRAPPC11 | Limb-girdle muscular dystrophy 18 | ||
| TRDN | Catecholaminergic polymorphic ventricular tachycardia | ||
| TREX1 | Aicardi-Goutieres syndrome 1 | ||
| TRHR | Generalized thyrotropin-releasing hormone resistance | ||
| TRIM32 | TRIM32-related disorders | ||
| TRIM37 | Mulibrey nanism | ||
| TRMU | Liver failure, acute infantile | ||
| TRPM6 | Hypomagnesemia 1 | ||
| TSEN2 | Pontocerebellar hypoplasia type 2B | ||
| TSEN34 | Pontocerebellar hypoplasia type 2C | ||
| TSEN54 | Pontocerebellar hypoplasia type 2A | ||
| TSFM | Combined oxidative phosphorylation deficiency, TSFM-related | ||
| TSHB | Congenital hypothyroidism, TSHB- related | ||
| TSHR | Congenital hypothyroidism, TSHR- related | ||
| TTC37 | Trichohepatoenteric syndrome | ||
| TTC7A | Gastrointestinal defects and immunodeficiency syndrome | ||
| TTC8 | Bardet-Biedl syndrome 8 | ||
| TTPA | Ataxia with isolated vitamin E deficiency | ||
| TULP1 | TULP1-related retinal disorders | ||
| TYMP | Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease | ||
| TYR | Oculocutaneous albinism types 1A and 1B | ||
| TYRP1 | Oculocutaneous albinism, type III | ||
| UGT1A1 | Crigler-Najjar syndrome | ||
| UNC13D | Familial hemophagocytic lymphohistiocytosis type 3 | ||
| UPF3B | Lujan-Fryns syndrome, UPF3B- related* | ||
| USH1C | USH1C-related disorders | ||
| USH1G | Usher syndrome type IG | ||
| USH2A | Usher syndrome, type 2A | ||
| VDR | Vitamin D-dependent rickets, type 2A | ||
| VLDLR | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | ||
| VPS13A | Choreoacanthocytosis | ||
| VPS13B | Cohen syndrome | ||
| VPS45 | Severe congenital neutropenia, VPS45-related | ||
| VPS53 | Pontocerebellar hypoplasia type 2E | ||
| VRK1 | Pontocerebellar hypoplasia type 1A | ||
| VSX2 | Microphthalmia with or without coloboma | ||
| WAS | WAS-related hematopoietic disorder* | ||
| WHRN | Usher syndrome type 2D | ||
| WISP3 | Progressive pseudorheumatoid dysplasia | ||
| WNT1 | Osteogenesis imperfecta type 15 | ||
| WNT10A | WNT10A-related ectodermal dysplasias | ||
| WRN | Werner syndrome | ||
| XPA | Xeroderma pigmentosum, group A | ||
| XPC | Xeroderma pigmentosum, group C | ||
| ZAP70 | ZAP70-related Immunodeficiency | ||
| ZBTB24 | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | ||
| ZDHHC9 | X-linked intellectual disability, ZDHHC9-related* | ||
| ZFYVE26 | Spastic paraplegia 15 | ||
| ZNF469 | Brittle cornea syndrome 1 | ||
| ZNF711 | X-linked intellectual disability, ZNF711-related* |
Couples Carrier Screening gene list
* X-Linked Conditions
| Condition | Gene | |
|---|---|---|
| Couples Carrier Screening | Cystic fibrosis | CFTR |
| Fragile X syndrome* | FMR1 | |
| Spinal muscular atrophy | SMN1 | Achalasia-addisonianism-alacrimia syndrome | AAAS |
| Combined oxidative phosphorylation deficiency 8 | AARS2 | |
| Ichthyosis, congenital, autosomal recessive 4A | ABCA12 | |
| Surfactant metabolism dysfunction, pulmonary, 3 | ABCA3 | |
| Cholestasis, progressive familial intrahepatic 2 | ABCB11 | |
| Cholestasis, progressive familial intrahepatic 3 | ABCB4 | |
| Hyperinsulinemic hypoglycemia, familial, 1 | ABCC8 | |
| Adrenoleukodystrophy* | ABCD1 | |
| Mitochondrial complex I deficiency due to ACAD9 deficiency | ACAD9 | |
| Acyl-CoA dehydrogenase, medium chain, deficiency of | ACADM | |
| VLCAD deficiency | ACADVL | |
| Alpha-methylacetoacetic aciduria | ACAT1 | |
| Peroxisomal acyl-CoA oxidase deficiency | ACOX1 | |
| Adenosine deaminase deficiency, partial | ADA | |
| Ehlers-Danlos syndrome, type VIIC | ADAMTS2 | |
| Aicardi-Goutieres syndrome 6 | ADAR | |
| Polymicrogyria, bilateral frontoparietal | ADGRG1 | |
| Usher syndrome, type 2C | ADGRV1 | |
| Adenylosuccinase deficiency | ADSL | |
| Aspartylglucosaminuria | AGA | |
| Sengers syndrome | AGK | |
| Glycogen storage disease IIIa | AGL | |
| Chondrodysplasia punctata, rhizomelic, type 3 | AGPS | |
| Hyperoxaluria, primary, type 1 | AGXT | |
| Joubert syndrome-3 | AHI1 | |
| Cowchock syndrome* | AIFM1 | |
| Cone-rod dystrophy | AIPL1 | |
| Reticular dysgenesis | AK2 | |
| Spastic paraplegia 9B, autosomal recessive | ALDH18A1 | |
| Sjogren-Larsson syndrome | ALDH3A2 | |
| Succinic semialdehyde dehydrogenase deficiency | ALDH5A1 | |
| Epilepsy, pyridoxine-dependent | ALDH7A1 | |
| Fructose intolerance | ALDOB | |
| Congenital disorder of glycosylation, type Ik | ALG1 | |
| Congenital disorder of glycosylation, type Id | ALG3 | |
| Congenital disorder of glycosylation, type Ic | ALG6 | |
| Alstrom syndrome | ALMS1 | |
| Hypophosphatasia, infantile | ALPL | |
| Pontocerebellar hypoplasia, type 9 | AMPD2 | |
| Glycine encephalopathy | AMT | |
| Mental retardation, X-linked syndromic 5* | AP1S2 | |
| Diabetes insipidus, nephrogenic | AQP2 | |
| Argininemia | ARG1 | |
| Joubert syndrome 8 | ARL13B | |
| Bardet-Biedl syndrome 3 | ARL 6.00 | |
| Metachromatic leukodystrophy | ARSA | |
| Mucopolysaccharidosis type VI (Maroteaux-Lamy) | ARSB | |
| Hydranencephaly with abnormal genitalia* | ARX | |
| Argininosuccinic aciduria | ASL | |
| Asparagine synthetase deficiency | ASNS | |
| Canavan disease | ASPA | |
| Microcephaly 5, primary, autosomal recessive | ASPM | |
| Citrullinemia | ASS1 | |
| Ataxia-telangiectasia | ATM | |
| Renal tubular acidosis with deafness | ATP6V1B1 | |
| Menkes disease* | ATP7A | |
| Wilson disease | ATP7B | |
| Cholestasis, progressive familial intrahepatic 1 | ATP8B1 | |
| Seckel syndrome 1 | ATR | |
| Mental retardation-hypotonic facies syndrome, X-linked* | ATRX | |
| 3-methylglutaconic aciduria, type I | AUH | |
| Peters-plus syndrome | B3GLCT | |
| Bardet-Biedl syndrome 1 | BBS1 | |
| Bardet-Biedl syndrome 10 | BBS10 | |
| Bardet-Biedl syndrome 12 | BBS12 | |
| Bardet-Biedl syndrome 2 | BBS2 | |
| Bardet-Biedl syndrome 4 | BBS4 | |
| Bardet-Biedl syndrome 5 | BBS5 | |
| Bardet-Biedl syndrome 7 | BBS7 | |
| Bardet-Biedl syndrome 9 | BBS9 | |
| Maple syrup urine disease, type Ia | BCKDHA | |
| Maple syrup urine disease, type Ib | BCKDHB | |
| GRACILE syndrome | BCS1L | |
| Bloom syndrome | BLM | |
| Rigidity and multifocal seizure syndrome, lethal neonatal | BRAT1 | |
| Mental retardation, X-linked 93* | BRWD3 | |
| Bartter syndrome, type 4a | BSND | |
| Agammaglobulinemia and isolated hormone deficiency* | BTK | |
| Joubert syndrome 17 | C5orf42 | |
| Desbuquois dysplasia | CANT1 | |
| Muscular dystrophy, limb-girdle, type 2A | CAPN3 | |
| Mental retardation* | CASK | |
| Ventricular tachycardia, catecholaminergic polymorphic, 2 | CASQ2 | |
| Mental retardation, autosomal recessive 3 | CC2D1A | |
| Joubert syndrome 9 | CC2D2A | |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | CCBE1 | |
| Ciliary dyskinesia, primary, 17 | CCDC103 | |
| Ciliary dyskinesia, primary, 14 | CCDC39 | |
| Hydrocephalus, nonsyndromic, autosomal recessive | CCDC88C | |
| Immunodeficiency 19 | CD3D | |
| Immunodeficiency with hyper-IgM, type 3 | CD40 | |
| Immunodeficiency, X-linked, with hyper-IgM* | CD40LG | |
| Usher syndrome, type 1D | CDH23 | |
| Microcephaly 6, primary, autosomal recessive | CENPJ | |
| Seckel syndrome 5 | CEP152 | |
| Joubert syndrome 5 | CEP290 | |
| Joubert syndrome 15 | CEP41 | |
| Myasthenic syndrome, congenital, 6, presynaptic | CHAT | |
| Myasthenic syndrome, congenital, 4A, slow-channel | CHRNE | |
| Escobar syndrome | CHRNG | |
| Bare lymphocyte syndrome, type II, complementation group A | CIITA | |
| Filippi syndrome | CKAP2L | |
| Dent disease* | CLCN5 | |
| Osteopetrosis, autosomal recessive 4 | CLCN7 | |
| Ceroid lipofuscinosis, neuronal, 3 | CLN3 | |
| Ceroid lipofuscinosis, neuronal, 5 | CLN5 | |
| Ceroid lipofuscinosis, neuronal 6 | CLN6 | |
| Ceroid lipofuscinosis, neuronal, 8 | CLN8 | |
| Pontocerebellar hypoplasia, type 10 | CLP 1 | |
| 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia | CLPB | |
| Usher syndrome, type 3A | CLRN1 | |
| Macular degeneration, juvenile | CNGB3 | |
| Fibrochondrogenesis 2 | COL11A2 | |
| Epidermolysis bullosa, junctional, non-Herlitz type | COL17A1 | |
| Knobloch syndrome, type 1 | COL18A1 | |
| Steel Syndrome | COL27A1 | |
| Alport syndrome, autosomal recessive | COL4A3 | |
| Alport syndrome, autosomal recessive | COL4A4 | |
| Alport syndrome 1* | COL4A5 | |
| Ullrich congenital muscular dystrophy 1 | COL6A1 | |
| Epidermolysis bullosa dystrophica, AR | COL7A1 | |
| 3MC syndrome 2 | COLEC11 | |
| Myasthenic syndrome, congenital, 5 | COLQ | |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | COX15 | |
| Carbamoylphosphate synthetase I deficiency | CPS1 | |
| CPT deficiency, hepatic, type IA | CPT1A | |
| CPT II deficiency, lethal neonatal | CPT2 | |
| Leber congenital amaurosis 8 | CRB1 | |
| Osteogenesis imperfecta, type VII | CRTAP | |
| Joubert syndrome 21 | CSPP1 | |
| Cystinosis, nephropathic | CTNS | |
| Galactosialidosis | CTSA | |
| Papillon-Lefevre syndrome | CTSC | |
| Ceroid lipofuscinosis, neuronal, 10 | CTSD | |
| Pycnodysostosis | CTSK | |
| Mental retardation, X-linked, syndromic 15 (Cabezas type)* | CUL4B | |
| Chronic granulomatous disease, autosomal, due to deficiency of CYBA | CYBA | |
| Chronic granulomatous disease, X-linked* | CYBB | |
| Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete | CYP11A1 | |
| Hypoaldosteronism, congenital, due to CMO I deficiency | CYP11B2 | |
| 17,20-lyase deficiency, isolated | CYP17A1 | |
| Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset | CYP1B1 | |
| Cerebrotendinous xanthomatosis | CYP27A1 | |
| Bile acid synthesis defect, congenital, 3 | CYP7B1 | |
| D-2-hydroxyglutaric aciduria | D2HGDH | |
| Maple syrup urine disease, type II | DBT | |
| Woodhouse-Sakati syndrome | DCAF17 | |
| Severe combined immunodeficiency, Athabascan type | DCLRE1C | |
| Lissencephaly, X-linked* | DCX | |
| Aromatic L-amino acid decarboxylase deficiency | DDC | |
| Warsaw breakage syndrome | DDX11 | |
| ?Diarrhea 7 | DGAT1 | |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | DGUOK | |
| Desmosterolosis | DHCR24 | |
| Smith-Lemli-Opitz syndrome | DHCR7 | |
| Retinitis pigmentosa 59 | DHDDS | |
| Perlman syndrome | DIS3L2 | |
| Dyskeratosis congenita, X-linked* | DKC1 | |
| Dihydrolipoamide dehydrogenase deficiency | DLD | |
| Mental retardation, X-linked 90* | DLG3 | |
| Spondylocostal dysostosis 1, autosomal recessive | DLL3 | |
| Duchenne muscular dystrophy* | DMD | |
| Ciliary dyskinesia, primary, 7, with or without situs inversus | DNAH11 | |
| Ciliary dyskinesia, primary, 3, with or without situs inversus | DNAH5 | |
| Ciliary dyskinesia, primary, 1, with or without situs inversus | DNAI1 | |
| Ciliary dyskinesia, primary, 9, with or without situs inversus | DNAI2 | |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | DNMT3B | |
| Adams-Oliver syndrome 2 | DOCK6 | |
| Myasthenic syndrome, congenital, 10 | DOK7 | |
| Dyggve-Melchior-Clausen disease | DYM | |
| Short-rib thoracic dysplasia 3 with or without polydactyly | DYNC2H1 | |
| Muscular dystrophy, limb-girdle, type 2B | DYSF | |
| Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | ECHS1 | |
| Ectodermal dysplasia 1, hypohidrotic, X-linked* | EDA | |
| Wolcott-Rallison syndrome | EIF2AK3 | |
| Leukoencephalopathy with vanishing white matter | EIF2B1 | |
| Leukoencephalopathy with vanishing white matter | EIF2B2 | |
| Leukoencephalopathy with vanishing white matter | EIF2B3 | |
| Leukoencephaly with vanishing white matter | EIF2B4 | |
| Leukoencephalopathy with vanishing white matter | EIF2B5 | |
| Dysautonomia, familial | ELP1 | |
| Emery-Dreifuss muscular dystrophy 1, X-linked* | EMD | |
| Hypophosphatemic rickets, autosomal recessive, 2 | ENPP1 | |
| Vici syndrome | EPG5 | |
| Cerebrooculofacioskeletal syndrome 2 | ERCC2 | |
| Fanconi anemia, complementation group Q | ERCC4 | |
| Xeroderma pigmentosum, group G | ERCC5 | |
| Cockayne syndrome, type B | ERCC6 | |
| Cockayne syndrome, type A | ERCC8 | |
| SC phocomelia syndrome | ESCO2 | |
| Glutaric acidemia IIA | ETFA | |
| Glutaric acidemia IIB | ETFB | |
| Glutaric acidemia IIC | ETFDH | |
| Ethylmalonic encephalopathy | ETHE1 | |
| Ellis-van Creveld syndrome | EVC | |
| Ellis-van Creveld syndrome | EVC2 | |
| Pontocerebellar hypoplasia, type 1B | EXOSC3 | |
| Pontocerebellar hypoplasia, type 1C | EXOSC8 | |
| Hypoprothrombinaemia (MIM#613679);Dysprothrombinaemia | F2 | |
| Tyrosinemia, type I | FAH | |
| Leukodystrophy, hypomyelinating, 5 | FAM126A | |
| Fanconi anemia, complementation group A | FANCA | |
| Fanconi anemia, complementation group B* | FANCB | |
| Fanconi anemia, complementation group C | FANCC | |
| Fanconi anemia, complementation group D2 | FANCD2 | |
| Fanconi anemia, complementation group E | FANCE | |
| Fanconi anemia, complementation group F | FANCF | |
| Fanconi anemia, complementation group G | FANCG | |
| Fanconi anemia, complementation group I | FANCI | |
| Fanconi anemia, complementation group L | FANCL | |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | FAT4 | |
| Fructose-1,6-bisphosphatase deficiency | FBP1 | |
| Parkinson disease 15, autosomal recessive | FBXO7 | |
| Fumarase deficiency | FH | |
| Emery-Dreifuss muscular dystrophy 6, X-linked* | FHL1 | |
| Bruck syndrome 1 | FKBP10 | |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 | FKRP | |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | FKTN | |
| FG syndrome 2* | FLNA | |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy | FOXN1 | |
| Mitochondrial complex I deficiency | FOXRED1 | |
| Fraser syndrome | FRAS1 | |
| Fraser syndrome | FREM2 | |
| Mental retardation, X-linked 9* | FTSJ1 | |
| Fucosidosis | FUCA1 | |
| Glycogen storage disease Ia | G6PC | |
| Dursun syndrome | G6PC3 | |
| Glycogen storage disease II | GAA | |
| Krabbe disease | GALC | |
| Mucopolysaccharidosis IVA | GALNS | |
| Galactosemia | GALT | |
| Cerebral creatine deficiency syndrome 2 | GAMT | |
| Cerebral creatine deficiency syndrome 3 | GATM | |
| Glycogen storage disease IV | GBE1 | |
| Glutaricaciduria, type I | GCDH | |
| Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | GCH1 | |
| Charcot-Marie-Tooth disease, recessive intermediate, A | GDAP1 | |
| Right atrial isomerism | GDF1 | |
| Chondrodysplasia, Grebe type | GDF5 | |
| Combined oxidative phosphorylation deficiency 1 | GFM1 | |
| Laron dwarfism | GHR | |
| Charcot-Marie-Tooth neuropathy, X-linked dominant* | GJB1 | |
| Fabry disease* | GLA | |
| Mucopolysaccharidosis type IVB (Morquio) | GLB1 | |
| Glycine encephalopathy | GLDC | |
| Arthrogryposis, lethal, with anterior horn cell disease | GLE1 | |
| Intellectual developmental disorder with cardiac arrhythmia, 617173 (3) | GNB5 | |
| Inclusion body myopathy, autosomal recessive | GNE | |
| Chondrodysplasia punctata, rhizomelic, type 2 | GNPAT | |
| Mucolipidosis III alpha/beta | GNPTAB | |
| Mucolipidosis III gamma | GNPTG | |
| Mucopolysaccharidosis type IIID | GNS | |
| Geroderma osteodysplasticum | GORAB | |
| Simpson-Golabi-Behmel syndrome, type 1* | GPC3 | |
| Ocular albinism, type I, Nettleship-Falls type* | GPR143 | |
| Chudley-McCullough syndrome | GPSM2 | |
| Glutathione synthetase deficiency | GSS | |
| Leber congenital amaurosis 1 | GUCY2D | |
| Mucopolysaccharidosis VII | GUSB | |
| 3-hydroxyacyl-CoA dehydrogenase deficiency | HADH | |
| Fatty liver, acute, of pregnancy | HADHA | |
| Trifunctional protein deficiency | HADHB | |
| Hemochromatosis, type 2B | HAMP | |
| Neutropenia, severe congenital 3, autosomal recessive | HAX1 | |
| Thalassemias, beta- | HBB | |
| Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )* | HCFC1 | |
| Tay-Sachs disease | HEXA | |
| Sandhoff disease, infantile, juvenile, and adult forms | HEXB | |
| Hemochromatosis, type 2A | HFE2 | |
| Mucopolysaccharidosis type IIIC (Sanfilippo C) | HGSNAT | |
| 3-hydroxyisobutryl-CoA hydrolase deficiency | HIBCH | |
| Holocarboxylase synthetase deficiency | HLCS | |
| HMG-CoA lyase deficiency | HMGCL | |
| HMG-CoA synthase-2 deficiency | HMGCS2 | |
| Tyrosinemia, type III | HPD | |
| Lesch-Nyhan syndrome* | HPRT1 | |
| Hermansky-Pudlak syndrome 1 | HPS1 | |
| Hermansky-Pudlak syndrome 3 | HPS3 | |
| Hermansky-Pudlak syndrome 4 | HPS4 | |
| Hermansky-Pudlak syndrome 5 | HPS5 | |
| Hermansky-Pudlak syndrome 6 | HPS6 | |
| HSD10 mitochondrial disease* | HSD17B10 | |
| D-bifunctional protein deficiency | HSD17B4 | |
| 3-beta-hydroxysteroid dehydrogenase, type II, deficiency | HSD3B2 | |
| Mental retardation, X-linked syndromic, Turner type* | HUWE1 | |
| Hydrolethalus syndrome | HYLS1 | |
| Mucopolysaccharidosis II* | IDS | |
| Mucopolysaccharidosis Ih | IDUA | |
| Neuronopathy, distal hereditary motor, type VI | IGHMBP2 | |
| Immunodeficiency 15 | IKBKB | |
| Mental retardation, X-linked 21/34* | IL1RAPL1 | |
| Severe combined immunodeficiency, X-linked* | IL2RG | |
| Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type | IL7R | |
| Joubert syndrome 1 | INPP5E | |
| Nephronophthisis 2, infantile | INVS | |
| Mental retardation, X-linked 1* | IQSEC2 | |
| Epidermolysis bullosa, junctional, with pyloric stenosis | ITGA6 | |
| Epidermolysis bullosa, junctional, with pyloric atresia | ITGB4 | |
| Gillespie syndrome, 206700 (3) | ITPR1 | |
| Isovaleric acidemia | IVD | |
| SCID, autosomal recessive, T-negative/B-positive type | JAK3 | |
| Lissencephaly 6, with microcephaly | KATNB1 | |
| Bartter syndrome, type 2 | KCNJ1 | |
| Hyperinsulinemic hypoglycemia, familial, 2 | KCNJ11 | |
| Jervell and Lange-Nielsen syndrome | KCNQ1 | |
| Mental retardation, X-linked, syndromic, Claes-Jensen type* | KDM5C | |
| Spastic paraplegia 30, autosomal recessive | KIF1A | |
| Hydrolethalus syndrome 2 | KIF7 | |
| Epidermolysis bullosa simplex, recessive 1 | KRT14 | |
| MASA syndrome* | L1CAM | |
| L-2-hydroxyglutaric aciduria | L2HGDH | |
| Muscular dystrophy, congenital merosin-deficient | LAMA2 | |
| Epidermolysis bullosa, junctional, Herlitz type | LAMA3 | |
| Lissencephaly 5 | LAMB1 | |
| Pierson syndrome | LAMB2 | |
| Epidermolysis bullosa, junctional, Herlitz type | LAMB3 | |
| Epidermolysis bullosa, junctional, Herlitz type | LAMC2 | |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 | LARGE1 | |
| Infantile liver failure syndrome 1 | LARS | |
| Leber congenital amaurosis 5 | LCA5 | |
| LDL cholesterol level QTL2/Hypercholesterolemia | LDLR | |
| Hypercholesterolemia, familial, autosomal recessive | LDLRAP1 | |
| Pituitary hormone deficiency, combined, 3 | LHX3 | |
| Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome | LIFR | |
| LIG4 syndrome | LIG4 | |
| Cholesteryl ester storage disease | LIPA | |
| Methylmalonic aciduria and homocystinuria, cblF type | LMBRD1 | |
| Restrictive dermopathy, lethal | LMNA | |
| Lipoprotein lipase deficiency | LPL | |
| Leber congenital amaurosis 14 | LRAT | |
| Donnai-Barrow syndrome | LRP2 | |
| Leigh syndrome, French-Canadian type | LRPPRC | |
| Chediak-Higashi syndrome | LYST | |
| Bardet-Biedl syndrome 17 | LZTFL1 | |
| Mannosidosis, alpha-, types I and II | MAN2B1 | |
| Mannosidosis, beta | MANBA | |
| 3MC syndrome 1 | MASP1 | |
| Mucolipidosis IV | MCOLN1 | |
| Microcephaly 1, primary, autosomal recessive | MCPH1 | |
| Encephalopathy, neonatal severe* | MECP2 | |
| Lujan-Fryns syndrome* | MED12 | |
| Microcephaly, postnatal progressive, with seizures and brain atrophy | MED17 | |
| Spondylocostal dysostosis 2, autosomal recessive | MESP2 | |
| Mental retardation, autosomal recessive 44 | METTL23 | |
| Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3) | MFN2 | |
| Ceroid lipofuscinosis, neuronal, 7 | MFSD8 | |
| Opitz GBBB syndrome, type I* | MID1 | |
| McKusick-Kaufman syndrome | MKKS | |
| Meckel syndrome 1 | MKS1 | |
| Megalencephalic leukoencephalopathy with subcortical cysts | MLC1 | |
| Malonyl-CoA decarboxylase deficiency | MLYCD | |
| Methylmalonic aciduria, vitamin B12-responsive | MMAA | |
| Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type | MMAB | |
| Methylmalonic aciduria and homocystinuria, cblC type | MMACHC | |
| Methylmalonic aciduria and homocystinuria, cblD type | MMADHC | |
| Molybdenum cofactor deficiency A | MOCS1 | |
| Molybdenum cofactor deficiency B | MOCS2 | |
| Congenital disorder of glycosylation, type Ib | MPI | |
| Thrombocytopenia, congenital amegakaryocytic | MPL | |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | MPV17 | |
| Ataxia-telangiectasia-like disorder | MRE11 | |
| Combined oxidative phosphorylation deficiency 15 | MTFMT | |
| Homocystinuria due to MTHFR deficiency | MTHFR | |
| Myotubular myopathy, X-linked* | MTM1 | |
| Charcot-Marie-Tooth disease, type 4B1 | MTMR2 | |
| Homocystinuria-megaloblastic anemia, cblG complementation type | MTR | |
| Homocystinuria-megaloblastic anemia, cbl E type | MTRR | |
| Abetalipoproteinemia | MTTP | |
| Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | MUSK | |
| Methylmalonic aciduria, mut(0) type | MUT | |
| Mevalonic aciduria | MVK | |
| Microvillus inclusion disease | MYO5B | |
| Usher syndrome, type 1B | MYO7A | |
| Schindler disease, type I | NAGA | |
| Mucopolysaccharidosis type IIIB (Sanfilippo B) | NAGLU | |
| N-acetylglutamate synthase deficiency | NAGS | |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies | NALCN | |
| Combined oxidative phosphorylation deficiency 24 | NARS2 | |
| Nijmegen breakage syndrome | NBN | |
| Chronic granulomatous disease due to deficiency of NCF-2 | NCF2 | |
| Lissencephaly 4 (with microcephaly) | NDE1 | |
| Norrie disease* | NDP | |
| Charcot-Marie-Tooth disease, type 4D | NDRG1 | |
| Leigh syndrome | NDUFAF2 | |
| Mitochondrial complex 1 deficiency | NDUFAF5 | |
| Leigh syndrome | NDUFS4 | |
| Mitochondrial complex I deficiency | NDUFS6 | |
| Leigh syndrome | NDUFS7 | |
| Mitochondrial complex I deficiency | NDUFV1 | |
| Arthrogryposis multiplex congenita 6 (MIM#619334);Nemaline myopathy 2 | NEB | |
| Sialidosis, type I | NEU1 | |
| Congenital disorder of deglycosylation | NGLY1 | |
| Glucocorticoid deficiency 4 | NNT | |
| Niemann-Pick disease, type C1 | NPC1 | |
| Niemann-pick disease, type C2 | NPC2 | |
| Joubert syndrome 4 | NPHP1 | |
| Meckel syndrome 7 | NPHP3 | |
| Nephrotic syndrome, type 1 | NPHS1 | |
| Nephrotic syndrome, type 2 | NPHS2 | |
| 46XY sex reversal 2, dosage-sensitive* | NR0B1 | |
| Insensitivity to pain, congenital, with anhidrosis | NTRK1 | |
| Lowe syndrome* | OCRL | |
| Joubert syndrome 10* | OFD1 | |
| Behr syndrome, 210000 (3) | OPA1 | |
| 3-methylglutaconic aciduria, type III | OPA3 | |
| Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance* | OPHN1 | |
| Galloway-Mowat syndrome 3, 617729 (3) | OSGEP | |
| Osteopetrosis, autosomal recessive 5 | OSTM1 | |
| Ornithine transcarbamylase deficiency* | OTC | |
| Osteogenesis imperfecta, type VIII | P3H1 | |
| Phenylketonuria | PAH | |
| Mental retardation, X-linked 30/47* | PAK3 | |
| Neurodegeneration with brain iron accumulation 1 | PANK2 | |
| Pyruvate carboxylase deficiency | PC | |
| Propionicacidemia | PCCA | |
| Propionicacidemia | PCCB | |
| Usher syndrome, type 1F | PCDH15 | |
| Developmental and epileptic encephalopathy 9 (MIM#300088)* | PCDH19 | |
| Microcephalic osteodysplastic primordial dwarfism, type II | PCNT | |
| Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170)* | PDHA1 | |
| Pyruvate dehydrogenase E1-beta deficiency | PDHB | |
| Prolidase deficiency | PEPD | |
| Mitochondrial complex IV deficiency | PET100 | |
| Peroxisome biogenesis disorder 1A (Zellweger) | PEX1 | |
| Peroxisome biogenesis disorder 6A (Zellweger) | PEX10 | |
| Peroxisome biogenesis disorder 3A (Zellweger) | PEX12 | |
| Peroxisome biogenesis disorder 11A (Zellweger) | PEX13 | |
| Peroxisome biogenesis disorder 8A, (Zellweger) | PEX16 | |
| Peroxisome biogenesis disorder 5A (Zellweger) | PEX2 | |
| Peroxisome biogenesis disorder 7A (Zellweger) | PEX26 | |
| Peroxisome biogenesis disorder 2A (Zellweger) | PEX5 | |
| Peroxisome biogenesis disorder 4A (Zellweger) | PEX6 | |
| Chondrodysplasia punctata, rhizomelic, type 1 | PEX7 | |
| Glycogen storage disease VII | PFKM | |
| Hyperphosphatasia with mental retardation syndrome 3 | PGAP2 | |
| Phosphoglycerate kinase 1 deficiency* | PGK 1.00 | |
| Congenital disorder of glycosylation, type It | PGM1 | |
| Immunodeficiency 23 | PGM3 | |
| Mental retardation syndrome, X-linked, Siderius type* | PHF8 | |
| Neu-Laxova syndrome1 | PHGDH | |
| Refsum disease | PHYH | |
| Joubert syndrome 33 (MIM#617767) | PIBF1 | |
| Mental retardation, autosomal recessive 53 | PIGG | |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | PIGN | |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | PIGT | |
| Polycystic kidney and hepatic disease | PKHD1 | |
| Neurodegeneration with brain iron accumulation 2B MIM#610217;Infantile neuroaxonal dystrophy 1 MIM#256600 | PLA2G6 | |
| Ehlers-Danlos syndrome, type VI | PLOD1 | |
| Pelizaeus-Merzbacher disease* | PLP1 | |
| Epilepsy, early-onset, vitamin B6-dependent, 617290 (3) | PLPBP | |
| Congenital disorder of glycosylation, type Ia | PMM2 | |
| Microcephaly, seizures, and developmental delay | PNKP | |
| Pyridoxamine 5'-phosphate oxidase deficiency | PNPO | |
| Mitochondrial DNA depletion syndrome 4A (Alpers type) | POLG | |
| Treacher Collins syndrome 3 | POLR1C | |
| Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | POLR3B | |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | POMGNT1 | |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | POMT1 | |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | POMT2 | |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | POR | |
| Pituitary hormone deficiency, combined, 1 | POU1F1 | |
| Ceroid lipofuscinosis, neuronal, 1 | PPT1 | |
| Renpenning syndrome* | PQBP1 | |
| Brittle cornea syndrome 2 | PRDM5 | |
| Hemophagocytic lymphohistiocytosis, familial, 2 | PRF1 | |
| Pituitary hormone deficiency, combined, 2 | PROP1 | |
| Arts syndrome* | PRPS1 | |
| Metachromatic leukodystrophy due to SAP-b deficiency | PSAP | |
| Hyperphenylalaninemia, BH4-deficient, A | PTS | |
| Mitochondrial myopathy and sideroblastic anemia 1 | PUS1 | |
| Hyperphenylalaninemia, BH4-deficient, C | QDPR | |
| Warburg micro syndrome 3 | RAB18 | |
| Carpenter syndrome | RAB23 | |
| Warburg micro syndrome 1 | RAB3GAP1 | |
| Warburg micro syndrome 2 | RAB3GAP2 | |
| Severe combined immunodeficiency, B cell-negative | RAG1 | |
| Severe combined immunodeficiency, B cell-negative | RAG2 | |
| Fetal akinesia deformation sequence | RAPSN | |
| Pontocerebellar hypoplasia, type 6 | RARS2 | |
| Microphthalmia, isolated 3 | RAX | |
| Seckel syndrome 2 | RBBP8 | |
| Leber congenital amaurosis 13 | RDH12 | |
| Combined oxidative phosphorylation deficiency 11 | RMND1 | |
| Cartilage-hair hypoplasia | RMRP | |
| Aicardi-Goutieres syndrome 4 | RNASEH2A | |
| Aicardi-Goutieres syndrome 2 | RNASEH2B | |
| Aicardi-Goutieres syndrome 3 | RNASEH2C | |
| Retinitis pigmentosa 2* | RP2 | |
| Leber congenital amaurosis 2 | RPE65 | |
| Meckel syndrome 5 | RPGRIP1L | |
| Coffin-Lowry syndrome* | RPS6KA3 | |
| Dyskeratosis congenita, autosomal recessive 5 | RTEL1 | |
| Central core disease, MIM# 117000;Neuromuscular disease, congenital, with uniform type 1 fiber | RYR1 | |
| Spastic ataxia, Charlevoix-Saguenay type | SACS | |
| Aicardi-Goutieres syndrome 5 | SAMHD1 | |
| Lathosterolosis | SC5D | |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | SCO2 | |
| Bardet-Biedl syndrome 16 | SDCCAG8 | |
| Dyserythropoietic anemia, congenital, type II | SEC23B | |
| Pontocerebellar hypoplasia type 2D | SEPSECS | |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | SERAC1 | |
| Orofaciodigital syndrome VI | SERPINH1 | |
| Muscular dystrophy, limb-girdle, type 2D | SGCA | |
| Muscular dystrophy, limb-girdle, type 2E | SGCB | |
| Muscular dystrophy, limb-girdle, type 2F | SGCD | |
| Muscular dystrophy, limb-girdle, type 2C | SGCG | |
| Mucopolysaccharidisis type IIIA (Sanfilippo A) | SGSH | |
| Charcot-Marie-Tooth disease, type 4C | SH3TC2 | |
| Trichohepatoenteric syndrome 2 | SKIV2L | |
| Bartter syndrome, type 1 | SLC12A1 | |
| Agenesis of the corpus callosum with peripheral neuropathy | SLC12A6 | |
| Allan-Herndon-Dudley syndrome* | SLC16A2 | |
| Sialic acid storage disorder, infantile | SLC17A5 | |
| Thiamine-responsive megaloblastic anemia syndrome | SLC19A2 | |
| Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | SLC19A3 | |
| Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | SLC1A4 | |
| Carnitine deficiency, systemic primary | SLC22A5 | |
| Combined D-2- and L-2-hydroxyglutaric aciduria | SLC25A1 | |
| Citrullinemia, type II, neonatal-onset | SLC25A13 | |
| Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | SLC25A15 | |
| Achondrogenesis Ib | SLC26A2 | |
| Diarrhea 1, secretory chloride, congenital | SLC26A3 | |
| Arthrogryposis, mental retardation | SLC35A3 | |
| Glycogen storage disease Ib | SLC37A4 | |
| Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis | SLC38A8 | |
| Acrodermatitis enteropathica | SLC39A4 | |
| Albinism, oculocutaneous, type IV | SLC45A2 | |
| Folate malabsorption, hereditary | SLC46A1 | |
| Brown-Vialetto-Van Laere syndrome 2 | SLC52A2 | |
| Brown-Vialetto-Van Laere syndrome 1 | SLC52A3 | |
| Hyperekplexia 3 | SLC6A5 | |
| Cerebral creatine deficiency syndrome 1* | SLC6A8 | |
| Lysinuric protein intolerance | SLC7A7 | |
| Schimke immunoosseous dysplasia | SMARCAL1 | |
| Niemann-Pick disease, type A | SMPD1 | |
| Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | SNAP29 | |
| Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3) | SPATA5 | |
| Spastic paraplegia 11, autosomal recessive | SPG11 | |
| Netherton syndrome | SPINK5 | |
| Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | SPR | |
| Salt and pepper developmental regression syndrome, 609056 (3) | ST3GAL5 | |
| Lipoid adrenal hyperplasia | STAR | |
| Hemophagocytic lymphohistiocytosis, familial, 4 | STX11 | |
| Hemophagocytic lymphohistiocytosis, familial, 5 | STXBP2 | |
| Multiple sulfatase deficiency | SUMF1 | |
| Sulfite oxidase deficiency | SUOX | |
| Leigh syndrome, due to COX deficiency | SURF1 | |
| Epilepsy, X-linked, with variable learning disabilities and behavior disorders* | SYN1 | |
| Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias | TANGO2 | |
| Tyrosinemia | TAT | |
| Barth syndrome* | TAZ | |
| Pontocerebellar hypoplasia, type 11, 617695 (3) | TBC1D23 | |
| Epileptic encephalopathy, early infantile, 16 | TBC1D24 | |
| Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3) | TBCD | |
| Kenny-Caffey syndrome-1 | TBCE | |
| Osteopetrosis, autosomal recessive 1 | TCIRG1 | |
| Transcobalamin II deficiency | TCN2 | |
| Joubert syndrome 24 | TCTN2 | |
| Joubert syndrome 18 | TCTN3 | |
| Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay | TECPR2 | |
| You-Hoover-Fong syndrome, 616954 (3) | TELO2 | |
| Atransferrinemia | TF | |
| Ichthyosis, congenital, autosomal recessive 1 | TGM1 | |
| Segawa syndrome, recessive | TH | |
| Mental retardation, X-linked 12/35, 300957 (3)* | THOC2 | |
| Mitochondrial DNA depletion syndrome 2 (myopathic type) | TK2 | |
| Joubert syndrome 16 | TMEM138 | |
| Joubert syndrome 2 | TMEM216 | |
| Joubert syndrome 20 | TMEM231 | |
| Joubert syndrome 14 | TMEM237 | |
| Joubert syndrome 6 | TMEM67 | |
| Lissencephaly 8, 617255 (3) | TMTC3 | |
| Pontocerebellar hypoplasia, type 7, 614969 (3) | TOE1 | |
| Ceroid lipofuscinosis, neuronal, 2 | TPP1 | |
| Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness | TRDN | |
| Aicardi-Goutieres syndrome 1, dominant and recessive | TREX1 | |
| Muscular dystrophy, limb-girdle, type 2H | TRIM32 | |
| Mulibrey nanism | TRIM37 | |
| Liver failure, transient infantile | TRMU | |
| Hypomagnesemia 1, intestinal | TRPM6 | |
| Pontocerebellar hypoplasia type 2B | TSEN2 | |
| Pontocerebellar hypoplasia type 2A | TSEN54 | |
| Combined oxidative phosphorylation deficiency 3 | TSFM | |
| Hypothryoidism, congenital, nongoitrous 4 | TSHB | |
| Trichohepatoenteric syndrome 1 | TTC37 | |
| Gastrointestinal defects and immunodeficiency syndrome | TTC7A | |
| Bardet-Biedl syndrome 8 | TTC8 | |
| Ataxia with isolated vitamin E deficiency | TTPA | |
| Retinitis pigmentosa 14 | TULP1 | |
| Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | TWNK | |
| Mitochondrial DNA depletion syndrome 1 (MNGIE type) | TYMP | |
| Albinism, oculocutaneous, type IA | TYR | |
| Albinism, oculocutaneous, type III | TYRP1 | |
| Epileptic encephalopathy, early infantile, 44, 617132 (3) | UBA5 | |
| Fanconi anemia, complementation group T | UBE2T | |
| Johanson-Blizzard syndrome | UBR1 | |
| Crigler-Najjar syndrome, type I | UGT1A1 | |
| Hemophagocytic lymphohistiocytosis, familial, 3 | UNC13D | |
| Mental retardation, X-linked, syndromic 14* | UPF3B | |
| Usher syndrome, type 1C | USH1C | |
| Usher syndrome, type 1G | USH1G | |
| Usher syndrome, type 2A | USH2A | |
| Mental retardation, X-linked 99* | USP9X | |
| Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 | VLDLR | |
| Leukodystrophy, hypomyelinating, 12, 616683 (3) | VPS11 | |
| Cohen syndrome | VPS13B | |
| Neutropenia, severe congenital, 5, autosomal recessive | VPS45 | |
| Pontocerebellar hypoplasia, type 2E | VPS53 | |
| Pontocerebellar hypoplasia type 1A | VRK1 | |
| Microphthalmia with coloboma 3 | VSX2 | |
| Wiskott-Aldrich syndrome* | WAS | |
| Short-rib thoracic dysplasia 11 with or without polydactyly | WDR34 | |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | WDR62 | |
| Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | WDR81 | |
| Usher syndrome, type 2D | WHRN | |
| Arthropathy, progressive pseudorheumatoid, of childhood | WISP3 | |
| Werner syndrome | WRN | |
| Epileptic encephalopathy, early infantile, 28 | WWOX | |
| Lymphoproliferative syndrome, X-linked, 2* | XIAP | |
| Xeroderma pigmentosum, group A | XPA | |
| Xeroderma pigmentosum, group C | XPC | |
| Myopathy, lactic acidosis, and sideroblastic anemia 2 | YARS2 | |
| Immunodeficiency-centromeric instability-facial anomalies syndrome-2 | ZBTB24 | |
| Mental retardation, X-linked syndromic, Raymond type* | ZDHHC9 | |
| Spastic paraplegia 15, autosomal recessive | ZFYVE26 | |
| Mental retardation, X-linked 97* | ZNF711 |