Gold Gene Panel: Comprehensive Screening for 500 Common & Rare Genetic Conditions You Could Pass to Your Baby
For couples considering having a baby, there is nothing more important than doing everything you can to help ensure he or she will be healthy. This includes the baby’s genetic health, and with the Medgenome Carrier Test you can put your worried mind at ease. Our Gold Plan screens for 500 mutated or defective genes which could result in the development of genetic disorder, such as a wide range of autoimmune and genitourinary disorders.
Find out more about our Gold Plan by talking with a genetic counselor today!
Gene |
Phenotype in OMIM |
|---|---|
| ADA | Partial adenosine deaminase deficiency, Severe combined immunodeficiency due to ADA deficiencys |
| AK2 | Reticular dysgenesis |
| C3 | Primary C3 deficiency |
| CD19 | Common variable immunodeficiency |
| CD3D | Immunodeficiency 19 |
| CD3E | Immunodeficiency-18 |
| CD40LG | X-linked immunodeficiency with hyper-IgM type 1 |
| CFH | Complement factor H deficiency |
| CHRNA1 | Fast-channel congenital myasthenic syndrome-1B |
| CHRND | Congenital myasthenic syndrome-3C |
| CHRND | Fast-channel congenital myasthenic syndrome-3B |
| CHRNE | fast-channel congenital myasthenic syndrome-4B |
| CHRNE | Congenital myasthenic syndrome-4C associated with acetylcholine receptor (AChR) deficiency |
| CIITA | Bare lymphocyte syndrome, type II, complementation group A |
| DCLRE1C | Severe combined immunodeficiency, Athabascan type |
| DOK7 | Congenital myasthenic syndrome-10 |
| FOXN1 | T-cell immunodeficiency, congenital alopecia and nail dystrophy |
| ICOS | Common variable immunodeficiency |
| IL2 | Severe combined immunodeficiency due to IL2 deficiency |
| IL21R | autosomal recessive IL21R-related primary immunodeficiency, elevated level of IgE |
| IL7R | T-cell negative, B-cell/natural killer cell-positive type severe combined immunodeficiency |
| JAK3 | T cell-negative (T-), B cell-positive (B+), natural killer cell-negative (NK-) severe combined immunodeficiency |
| LYST | Chediak-Higashi syndrome |
| MEFV | Familial Mediterranean fever |
| NHEJ1 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation |
| PTPRC | T cell-negative, B cell-positive, natural killer cell-positive severe combined immunodeficiency, susceptibility to Hepatitic C virus |
| RAG1 | Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, combined cellular and humoral immune defects with granulomas, Omenn syndrome, B cell-negative severe combined immunodeficiency |
| RAG2 | Combined cellular and humoral immune defects with granulomas, Omenn syndrome, B cell-negative severe combined immunodeficiency |
| RFX5 | Bare lymphocyte syndrome, type II, complementation group E/ C |
| RFXANK | MHC class II deficiency, complementation group B |
| RFXAP | Bare lymphocyte syndrome, type II, complementation group D |
| TAP1 | Bare lymphocyte syndrome type I |
Gene |
Phenotype in OMIM |
|---|---|
| ADAMTS2 | Ehlers-Danlos syndrome type VIIC |
| COL11A1 | Fibrochondrogenesis |
| PLOD1 | Ehlers-Danlos type VI |
Gene |
Phenotype in OMIM |
|---|---|
| ABCA12 | Congenital ichthyosis |
| AP3B1 | Hermansky-Pudlak syndrome-2 |
| ATP6V0A2 | Cutis laxa type IIA |
| BSCL2 | Congenital generalized lipodystrophy type 2 |
| COL17A1 | Epidermolysis bullosa |
| COL7A1 | Epidermolysis bullosa |
| DCLRE1C | Omenn syndrome |
| DKC1 | X-linked dyskeratosiscongenita |
| EDA | X-linked hypohidrotic ectodermal dysplasia-1 |
| EDAR | Hypohidrotic ectodermal dysplasia-10B |
| EDARADD | Hypohidrotic ectodermal dysplasia-11B |
| EDN3 | Waardenburg syndrome type 4B |
| EDNRB | ABCD syndrome |
| EDNRB | Waardenburg syndrome type 4A |
| EFEMP2 | Cutis laxa type IB |
| ERCC6 | de Sanctis-Cacchione syndrome |
| GPR143 | Ocular albinism, type I, Nettleship-Falls type |
| GTF2H5 | photosensitive trichothiodystrophy-3 |
| HPS1 | HermanskyPudlak syndrome type 1 |
| ITGB4 | Epidermolysis bullosa of hands and feet, non-Herlitz type of junctional epidermolysis bullosa, junctional epidermolysis bullosa with pyloric atresia |
| LAMA3 | Herlitz type of junctional epidermolysis bullosa |
| LAMB3 | non Herlitz/ Herlitz type of junctional epidermolysis bullosa |
| LAMC2 | non Herlitz/ Herlitz type of junctional epidermolysis bullosa |
| LIPH | Hypotrichosis 7 |
| NHP2 | Dyskeratosis congenita-2 |
| NOP10 | Dyskeratosis congenita-1 |
| OCA2 | Oculocutaneous albinism type II, Brown oculocutaneous albinism |
| PLEC | Epidermolysis bullosa simplex with muscular dystrophy, Limb-girdle muscular dystrophy type 2Q |
| RMRP | Cartilage-hair hypoplasia |
| RTEL1 | Dyskeratosis congenita-5 |
| SLC39A4 | Acrodermatitisenteropathica |
| SLC45A2 | Oculocutaneous albinism type IV |
| SNAI2 | Waardenburg syndrome type IID |
| TERT | Dyskeratosis congenita-2 / -4 |
| TGM1 | Congenital ichthyosis-1 |
| TYR | Oculocutaneous albinism type IA |
| TYRP1 | Oculocutaneous albinism-3 |
| WRN | Werner syndrome |
| XPA | Xeroderma pigmentosum complementation group A |
| XPC | Xeroderma pigmentosum complementation group C |
| ZMPSTE24 | Mandibuloacral dysplasia with type B lipodystrophy, Lethal restrictive dermopathy |
Gene |
Phenotype in OMIM |
|---|---|
| AAAS | Achalasia-addisonianism-alacrimia syndrome |
| ABCC8 | Familial hyperinsulinemic hypoglycemia-1 |
| AIRE | Autoimmune polyendocrinopathy syndrome type I |
| AR | Androgen insensitivity |
| CYP11B1 | Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency |
| CYP17A1 | Congenital adrenal hyperplasia due to 17,20-alpha-hydroxylase deficiency/ 17-alpha-hydroxylase deficiency |
| CYP21A2 | Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
| CYP21A2 | Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency |
| DUOX2 | Thryoiddyshormonogenesis 6 |
| EIF2AK3 | Wolcott-Rallison syndrome |
| GH1 | Growth hormone deficiency isolated 1A |
| GHRHR | Growth hormone deficiency isolated 1B |
| HADH | 3-hydroxyacyl-CoA dehydrogenase deficiency, familial hyperinsulinemic hypoglycemia-4 |
| HSD3B2 | Congenital adrenal hyperplasia |
| IGF1 | Insulin-like growth factor I deficiency |
| INSR | Leprechaunism, Rabson-Mendenhall syndrome |
| KCNJ11 | Hyperinsulinsim type 2 |
| LHX3 | Combined pituitary hormone deficiency-3 |
| LRP5 | Osteoporosis-pseudoglioma syndrome |
| NR0B1 | X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism |
| PAX8 | Congenital nongoitrous hypothyroidism-2 |
| PROP1 | Combined pituitary hormone deficiency-2 |
| SLC5A5 | Thyroid dyshormonogenesis 1 |
| SRD5A2 | Pseudovaginalperineoscrotal hypospadias |
| STAR | Lipoid adrenal hyperplasia |
| TG | Thyroid dyshormonogenesis 3 |
| THRA | Nongoitrous congenital hypothyroidism-6 |
| TPO | Thyroid dyshormonogenesis 2A |
| TSHB | Congenital nongoitrous hypothyroidism-4 |
| TSHR | Familial gestational hyperthyroidism, nonautoimmune hyperthyroidism, congenital nongoitrous hypothyroidism 1, somatic hyperfunctioning thyroid adenoma, thyroid carcinoma with thyrotoxicosis |
Gene |
Phenotype in OMIM |
|---|---|
| FREM2 | Fraser syndrome |
Gene |
Phenotype in OMIM |
|---|---|
| CFTR | Cystic fibrosis, Sweat chloride elevation without CF, Congenital bilateral aplasia of the vas deferens |
| DOK7 | Fetal akinesia deformation sequence |
| ERBB3 | Lethal congenital contracture syndrome-2 |
| HADHA | acute fatty liver of pregnancy, maternal HELLP syndrome of pregnancy, LCHAD deficiency, trifunctional protein deficiency |
| HYLS1 | Hydrolethalus syndrome |
| L1CAM | X-linked hydrocephalus |
| NLRP7 | Recurrent hydatidiform mole-1 |
| RAPSN | Fetal akinesia deformation sequence | Myasthenic syndrome 11 |
| TTC37 | Trichohepatoenteric syndrome 1 |
Gene |
Phenotype in OMIM |
|---|---|
| FREM2 | Fraser syndrome |
Gene |
Phenotype in OMIM |
|---|---|
| ATRX | alpha-thalassemia/mental retardation syndrome |
| F11 | Factor XI deficiency |
| F8 | Hemophilia A |
| F9 | Hemophilia B |
| FANCA | Fanconi anemia of complementation group A |
| FANCC | Fanconi anemia of complementation group C |
| FANCG | Fanconi anemia of complementation group G |
| G6PD | Hemolyticanemia due to G6PD deficiency |
| GP1BB | Bernard Soulier syndrome type B |
| GP9 | Bernard Soulier syndrome type C |
| GSS | Glutathione synthetase deficiency, Hemolyticanemia due to glutathione synthetase deficiency |
| HBA1 | alpha-erythremias, alpha-Heinz body anemias, nondeletionalhemoglobin H disease, alpha-methemoglobinemias, alpha-thalassemias |
| HBA2 | Erythrocytosis, Heinz body anemia, nondeletionalhemoglobin H disease, hypochromic microcytic anemia, alpha-thalassemia |
| HBB | Sickle cell anemia |
| SBDS | Shwachman-Diamond syndrome/ Shwachman-Bodian-Diamond syndrome |
| vWF | von Willebrand disease |
| WAS | Wiskott Aldrich syndrome, X-linked thrombocytopenia |
| HFE | Hemochromatosis type 1 |
| HMOX1 | heme oxygenase-1 deficiency |
| HPRT1 | Lesch-Nyhan syndrome |
Gene |
Phenotype in OMIM |
|---|---|
| ABCB11 | Progressive familial intrahepatic cholestasis-2 |
| ABCB4 | Progressive familial intrahepatic cholestasis-3 |
| ABCD4 | Methylmalonic aciduria and homocystinuria, cblJ type |
| ACAD8 | Isobutyryl-CoA dehydrogenase deficiency |
| ACADL | Long-chain acyl-CoA dehydrogenase deficiency |
| ACADM | Medium-chain acyl-CoA dehydrogenase deficiency |
| ACADS | Short-chain acyl-CoA dehydrogenase deficiency |
| ACADSB | Short/branched-chain acyl-CoA dehydrogenase deficiency |
| ACADVL | Very long-chain acyl-CoA dehydrogenase deficiency |
| ACAT1 | Alpha-methylacetoacetic aciduria |
| ACOX1 | Peroxisomal acyl-CoA oxidase deficiency |
| ACSF3 | Combined malonic and methylmalonic aciduria |
| ADA | Partial adenosine deaminase deficiency, Severe combined immunodeficiency due to ADA deficiency |
| ADCK3 | Primary coenzyme Q10 deficiency-4 |
| AGL | Glycogen storage disease III |
| AGXT | Primary hyperoxaluria type I |
| AHCY | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| ALDH3A2 | Sjogren-Larsson syndrome |
| ALDOB | Hereditary fructose intolerance |
| ALG6 | Congenital disorder of glycosylation type Ic |
| ALPL | Infantile hypophosphatasia |
| AMT | Glycine encephalopathy |
| ARG1 | Argininemia |
| ARSB | Mucopolysaccharidosis type VI |
| ASL | Argininosuccinic aciduria |
| ASS1 | Citrullinemia |
| ATP8B1 | Progressive familial intrahepatic cholestasis-1 |
| AUH | 13JF5274VuNthhwKkLrYyZW73smjSYAEen |
| BCHE | Pseudocholinesterase deficiency |
| BCKDHA | Maple syrup urine disease type Ia |
| BCKDHB | Maple syrup urine disease type Ib |
| BTD | Biotinidase deficiency |
| CBS | Homocystinuria with or without response to pyridoxine |
| CD320 | Methylmalonic aciduria due to transcobalamin receptor defect |
| COQ9 | Primary coenzyme Q10 deficiency-5 |
| DBT | Maple syrup urine disease, type II |
| DCLRE1C | Severe combined immunodeficiency, Athabascan type |
| DDC | Aromatic L-amino acid decarboxylase deficiency |
| DHCR7 | Smith Lemlie Opitz syndrome |
| DLD | Dihydrolipoamide dehydrogenase deficiency |
| DMP1 | Hypophosphatemic rickets-1 |
| DNAJC19 | 13JF5274VuNthhwKkLrYyZW73smjSYAEen |
| DPAGT1 | Congenital disorder of glycosylation type Ij |
| DPYD | Dihydropyrimidine dehydrogenase deficiency |
| ENO3 | glycogen storage disease XIII |
| ETFA | Glutaricacidemia II |
| ETFB | Glutaricacidemia IIB |
| ETFDH | Glutaricacidemia IIC |
| FAH | Tyrosinemia type I |
| FH | Fumarase deficiency |
| G6PC | Glycogen storage disease 1a |
| GAA | Glycogen storage disease II |
| GALE | Galactose epimerase deficiency |
| GALK1 | Galactokinase deficiency |
| GALNS | Mucopolysaccharidosis type IVA |
| GALT | Galactosemia |
| GAMT | Cerebral creatine deficiency syndrome 2 |
| GBA | perinatal lethal Gaucher disease, Gaucher disease type I, Gaucher disease type II, Gaucher disease type III, Gaucher disease type IIIC |
| GBE1 | Glycogen storage disease IV |
| GCDH | Glutaricaciduria type I |
| GCSH | Glycine encephalopathy |
| GLA | Fabry disease, cardiac variant Fabry disease |
| GLB1 | GM1 gangliosidosis type 1,2,3 Mucopolysaccharidosis type IVB |
| GLDC | Nonketotic hyperglycinemia |
| GM2A | GM2-gangliosidosis, AB variant |
| GNMT | Glycine N-methyltransferase deficiency |
| GNPTAB | Mucolipidosois type II/IIIA |
| GNS | Mucopolysaccharidosis type IIID |
| GRHPR | Hyperoxaluria, primary, type II |
| GUSB | Mucopolysaccharidosis VII |
| HCFC1 | X-linked mental retardation-3 (methylmalonic acidemia and homocysteinemia, cblXtype ) |
| HFE | Hemochromatosis type 1 |
| HGSNAT | Mucopolysaccharidosis type IIIC (Sanfilippo C), Retinitis pigment 73 |
| HLCS | Holocarboxylase synthetase deficiency |
| HMGCS2 | 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency |
| HPD | Hawkinsinuria, tyrosinemia type III |
| IL2 | Severe combined immunodeficiency due to IL2 deficiency |
| IVD | Isovalericacidemia |
| LDHA | Glycogen storage disease XI |
| LIPA | Wolman disease |
| LMBRD1 | methylmalonic aciduria and homocystinuria, cblF type |
| MAT1A | Methionine adenosyltransferase deficiency |
| MCCC1 | 3-methylcrotonylglycinuria I deficiency |
| MCCC2 | 3-methylcrotonylglycinuria II deficiency |
| MCEE | Methylmalonyl-CoA epimerase deficiency |
| MCOLN1 | Mucolipidosis IV |
| MGAT2 | Congenital disorder of glycosylation type Iia |
| MLYCD | Malonyl-CoA decarboxylase deficiency |
| MMAA | Methylmalonic aciduria of the cblA complementation type |
| MMAB | Methylmalonic aciduria of the cblB complementation type |
| MMACHC | cblC type of combined methylmalonic aciduria and homocystinuria |
| MMADHC | Combined methylmalonic aciduria and homocystinuria, isolated homocystinuria, and isolated methylmalonic aciduria of complementation group cblD |
| MOGS | Congenital disorder of glycosylation type IIb |
| MPI | Congenital disorder of glycosylation type Ib/F |
| MTHFR | Homocystinuria due to methylenetetrahydrofolate reductase deficiency |
| MTR | Homocystinuria-megaloblastic anemia, cblG complementation type |
| MTRR | Homocystinuria-megaloblastic anemia, cblE complementation type |
| MUT | Methylmalonic aciduria of the complementation group ‘mut’ |
| NADK2 | 2,4-dienoyl-CoA reductase deficiency |
| NAGA | Kanzaki disease, Schindler disease types I and III |
| TMIE | Deafness-6 |
| NAGLU | Sanfilippo syndrome B/ Mucopolysaccharidosis type IIIB |
| NEU1 | Sialidosis types I and II |
| OPA3 | 3-methylglutaconic aciduria type III/ optic atrophy-3/ optic atrophy plus syndrome, Optic atrophy-3/ optic atrophy and cataract |
| OTC | Ornithine transcarbamylase deficiency |
| OXCT1 | Succinyl-CoA:3-oxoacid-CoA transferase deficiency |
| PAH | Phenylketonuria and non-PKU mild hyperphenylalaninemia |
| PCCA | Propionic acidemia |
| PCCB | Propionic acidemia |
| PMM2 | Congenital disorder of glycosylation type Ia |
| PSAP | Combined SAP deficiency, Metachromaticleukodystrophy due to SAP-b deficiency, Atypical Krabbe disease, Atypical Gaucher disease |
| PYGM | McArdle disease/ Glycogen storage disease type V |
| RFT1 | Congenital disorder of glycosylation type In |
| SGSH | Mucopolysaccharidosis type IIIA (Sanfilippo A) |
| SLC12A1 | Antenatal Bartter syndrome type 1 |
| SLC17A5 | Salla disease, Sialic acid storage disorder, infantile |
| SLC19A2 | Thiamine-responsive megaloblastic anemia syndrome |
| SLC22A5 | Primary systemic carnitine deficiency |
| SLC25A13 | Neonatal-onset type II citrullinemia/ neonatal intrahepatic cholestasis |
| SLC25A15 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome |
| SLC25A20 | Carnitine-acylcarnitine translocase deficiency |
| SLC35A1 | Congenital disorder of glycosylation type IIf |
| SLC35C1 | Congenital disorder of glycosylation type IIc |
| SLC37A4 | Glycogen storage disease Ib/ Ic |
| SLC6A8 | Cerebral creatine deficiency syndrome 1 |
| SUMF1 | Multiple sulfatase deficiency |
| TAT | Tyrosinemia type II |
| TJP2 | Progressive familial intrahepatic cholestasis-4 |
Gene |
Phenotype in OMIM |
|---|---|
| BTK | Brutonagammaglobulinemia |
| CYBB | X-linked chronic granulomatous disease |
| IL2RG | X-linked moderate combined immunodeficiency, X-linked severe combined immunodeficiency |
| NBN | Nijmegen breakage syndrome |
| NCF1 | Cytochrome b-positive chronic granulomatous disease type I |
| NCF2 | Cytochrome b-positive chronic granulomatous disease type II |
| NCF4 | Cytochrome b-positive chronic granulomatous disease type III |
| PPIA | Cytochrome b-negative chronic granulomatous disease |
| PPIB | X-linked chronic granulomatous disease |
Gene |
Phenotype in OMIM |
|---|---|
| HAX1 | Neutropenia, severe congenital 3, autosomal recessive |
Gene |
Phenotype in OMIM |
|---|---|
| ABCB11 | Progressive familial intrahepatic cholestasis-2 |
| ABCB4 | Progressive familial intrahepatic cholestasis-3 |
| ATP7B | Wilson disease |
| ATP8B1 | Progressive familial intrahepatic cholestasis-1 |
| ATP8B2 | Progressive familial intrahepatic cholestasis-1 |
| CPT1A | Carnitine palmitoyltransferase deficiency I |
| CPT2 | Infantile form of carnitine palmitoyltransferase II deficiency |
| CPT2 | Lethal neonatal form of carnitine palmitoyltransferase II |
| CTNS | Cystinosis |
| CTSK | Pycnodysostosis |
| HGD | Alkaptonuria |
| HMGCL | HMG-CoA lyase deficiency |
| HMOX1 | heme oxygenase-1 deficiency |
| LDLR | Familial hypercholesterolemia |
| LPL | Combined lipase deficiency |
| MOCS1 | Molybdenum cofactor deficiency of complementation group A |
| MOCS2 | Molybdenum cofactor deficiency of complementation group B |
| MVK | Hyper-IgD syndrome, Mevalonicaciduria |
| NAGS | N-acetylglutamate synthase deficiency |
| NGLY1 | Congenital disorder of deglycosylation |
| NPC1 | Niemann-Pick disease type C1 and NIEMann-Pick disease type D |
| NPC2 | Niemann-Pick disease type C2 |
| PCBD1 | Tetrahydrobiopterin -deficient hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency |
| PKLR | Pyruvate kinase deficiency |
| PNPO | Pyridoxamine 5′-phosphate oxidase deficiency |
| SLC25A13 | Neonatal-onset type II citrullinemia/ neonatal intrahepatic cholestasis |
| SMPD1 | Niemann-Pick disease type A/ B |
| TJP2 | Progressive familial intrahepatic cholestasis-4 |
| UBR1 | Johanson-Blizzard syndrome |
| UROS | Congenital erythropoietic porphyriais |
Gene |
Phenotype in OMIM |
|---|---|
| ACAD9 | Mitochondrial complex I deficiency due to deficiency of acyl-CoA dehydrogenase-9 |
| ARSA | Metachromtaicleukodystrophy |
| BCS1L | Leigh syndrome |
| BCS1L | Mitochondrial complex III deficiency, nuclear type 1 |
| C10orf2 | Mitochondrial DNA depletion syndrome-7 |
| COX10 | Leigh syndrome |
| COX10 | Mitochondrial complex IV deficiency |
| COX15 | Leigh syndrome due to cytochrome c oxidase deficiency |
| COX6B1 | Mitochondrial complex IV deficiency |
| CPS1 | Carbamoyl phosphate syntetase I |
| DGUOK | Mitochondrial DNA depletion syndrome-3 |
| FASTKD2 | Mitochondrial complex IV deficiency |
| GFM1 | Combined oxidative phosphorylation deficiency 1 |
| HADHB | Trifunctional protein deficiency |
| LRPPRC | French Canadian type of Leigh syndrome |
| MRPS16 | Combined oxidative phosphorylation deficiency-2 |
| MRPS22 | Combined oxidative phosphorylation deficiency-5 |
| NDUFAF2 | Leigh syndrome, Mitochondrial complex I deficiency |
| NDUFAF4 | Mitochondrial complex I deficiency |
| NDUFS3 | Leigh syndrome, Mitochondrial complex I deficiency |
| NDUFS4 | Leigh syndrome, Mitochondrial complex I deficiency |
| NDUFS6 | Mitochondrial complex I deficiency |
| NDUFS7 | Leigh syndrome |
| NDUFS8 | Leigh syndrome due to Mitochondrial complex I deficiency |
| NDUFV1 | Mitochondrial complex I deficiency |
| PC | Pyruvate carboxylase deficiency |
| PDSS2 | Primary coenzyme Q10 deficiency-3 |
| SCO1 | Mitochondrial complex IV deficiency |
| SCO2 | fatal infantile cardioencephalomyopathy due to cytochrome c oxidase (COX) deficiency-1 |
| SUCLA2 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
| SUCLG1 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with or without methylmalonic aciduria) |
| TK2 | Mitochondrial DNA depletion syndrome-2 |
| TSFM | Combined oxidative phosphorylation deficiency 3 |
| TYMP | Mitochondrial DNA depletion syndrome-1 / neurogastrointestinal encephalopathy (MNGIE) |
| UQCRB | Mitochondrial complex III deficiency nuclear type 3 |
| UQCRQ | Mitochondrial complex III deficiency nuclear type 4 |
| ALG6 | Congenital disorder of glycosylation type Ic |
| DPAGT1 | Congenital disorder of glycosylation type Ij |
| MGAT2 | Congenital disorder of glycosylation type Iia |
| MOGS | Congenital disorder of glycosylation type IIb |
| MPI | Congenital disorder of glycosylation type Ib |
| PDHA1 | Pyruvate dehydrogenase E1-alpha deficiency |
| PMM2 | Congenital disorder of glycosylation type Ia |
| RFT1 | Congenital disorder of glycosylation type In |
| SLC35A1 | Congenital disorder of glycosylation type IIf |
| SLC35C1 | Congenital disorder of glycosylation type IIc |
Gene |
Phenotype in OMIM |
|---|---|
| AGPS | Rhizomelic chondrodysplasia punctata type 3 |
| ARSE | X-linked recessive chondrodysplasia punctata |
| ATD | Asphixiating thoracic dystrophy |
| BCS1L | GRACILE syndrome |
| CA2 | Osteopetrosis |
| CLCN1 | Myotoniacongenita |
| CLCN7 | Osteopetrosis-2 |
| CLCN7 | Osteopetrosis-4 |
| COL2A1 | Achondrogenesis type II |
| COL6A1 | Bethlem myopathy-1 |
| COL6A1 | Ullrich congenital muscular dystrophy-1 |
| COL6A2 | Bethlem myopathy-1 |
| COL6A2 | Ullrich congenital muscular dystrophy-1 |
| COL6A3 | Bethlem myopathy-1 |
| COL6A3 | Ullrich congenital muscular dystrophy-1 |
| CRTAP | Osteogenesis imperfecta type VII |
| DLL3 | Spondylocostal dysostosis-1 |
| DYNC2H1 | Short-rib thoracic dysplasia-3 with or without polydactyly |
| DYSF | Miyoshi muscular dystrophy-1 |
| DYSF | Miyoshi muscular dystrophy-1 |
| EVC2 | Weyers acrofacial dysostosis |
| FIG4 | Yunis-Varon syndrome |
| FLNA | Frontometaphyseal dysplasia-1 |
| GLE1 | Arthrogryposis, lethal, with anterior horn cell disease |
| GNE | Inclusion body myopathy2, Nonaka myopathy |
| LAMA2 | Merosin-deficient congenital muscular dystrophy |
| LARGE | Muscular dystrophy cong. Type 1 D , Walker Warburg type A |
| LEPRE1 | Osteogenesis imperfecta, type VIII |
| LIFR | Stuve-Wiedemann syndrome / neonatal Schwartz-Jampel syndrome type 2 (SJS2) |
| MAN2B1 | alpha-mannosidosis |
| MESP2 | Spondylocostal dysostosis-2 |
| PLP1 | Pelizaeus-Merzbacher disease |
| RYR1 | Minicore myopathy with external Ophthalmologymoplegia |
| SACS | Spastic ataxia, Charlevoix-Saguenay type |
| SEPN1 | Rigid spine muscular dystrophy-1 |
| 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 |
| SIL1 | Marinesco-Sjogren syndrome |
| SLC26A2 | Diastrophic dysplasia ,AchondrogenesisIb, Epiphyseal dysplasia, 4 |
| SPG11 | Spastic paraplegia-11 |
| TCAP | Limb-girdle muscular dystrophy type 2G |
| TCIRG1 | Osteopetrosis type 1 |
| TNNT1 | Amish nemaline myopathy |
| TRIM32 | Limb-girdle muscular dystrophy type 2H |
| TRIM37 | Mulibreynanism |
| TRIP11 | Achondrogenesis type IA |
| TTN | Myopathy, early-onset, with fatal cardiomyopathy |
| TTPA | Ataxia with isolated vitamin E deficiency |
| UBA1 | X-linked form of infantile X-linked spinal muscular atrophy |
| VDR | Vitamin D-dependent rickets type 2A |
Gene |
Phenotype in OMIM |
|---|---|
| CEP290 | Meckel syndrome 4 |
| COL4A3 | Alport syndrome |
| COL4A4 | Alport syndrome |
| LAMB2 | Pierson syndrome |
| NPHP3 | Meckel syndrome 7, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1 |
| NPHP4 | Nephronophthisis 4, Senior-Loken syndrome 4 |
| NPHS1 | Nephrotic syndrome type 1 |
| PDCN | Nephrotic syndrome type 2 |
| OCRL | Dent disease-2, Lowe syndrome |
| PKHD1 | Polycystic kidney disease |
| PLCE1 | Nephrotic syndrome type 3 |
| RPGRIP1L | COACH syndrome, Joubert syndrome 7, Meckel syndrome 5 |
| SLC26A1 | Calcium oxalate nephrolithiasis |
| TMEM67 | Meckel syndrome type 3 |
| TMEM216 | Meckel syndrome 2 |
Gene |
Phenotype in OMIM |
|---|---|
| CLN3 | Neuronal ceroid lipofuscinosis-3 |
| ERCC6 | Cockayne syndrome B |
| ERCC6 | Cerebrooculofacioskeletal syndrome-1 |
| GALC | Krabbe disease |
| HEXA | GM2 Tay Sach disease |
| HEXB | GM2 Sandhoff disease |
| PANK2 | HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration), Neurodegeneration with brain iron accumulation-1 (Hallervorden-Spatz disease) |
| PLA2G6 | Infantile neuroaxonal dystrophy 1, Neurodegeneration with brain iron accumulation NBIA2B |
| PPT1 | Neuronal ceroid lipofuscinosis-1 |
| TPP1 | Neuronal ceroid lipofuscinosis-2 |
| CLN5 | Neuronal ceroid lipofuscinosis-5 |
| CLN6 | Neuronal ceroid lipofuscinosis-6 |
| CLN8 | Neuronal ceroid lipofuscinosis-8 |
| EIF2B5 | Leukoencephalopathy with vanishing white matter |
| ERCC8 | Cockayne syndrome A |
| ESCO2 | Roberts syndrome |
| FAM126A | Hypomyelinating leukodystrophy-5 |
| FOLR1 | cerebral folate transport deficiency |
| FXN | Friedreich ataxia |
| GAN | Giant axonal neuropathy-1 |
| GJC2 | Leukodystrophy, hypomyelinting, Lymphedema, IC, Spastic paraplegia 44 |
| HSD17B10 | 17-beta-hydroxysteroid dehydrogenase X deficiency, X-linked syndromic mental retardation-10 |
| HSPD1 | Hypomyelinating leukodystrophy-4 |
| MFSD8 | Neuronal ceroid lipofuscinosis-7 |
| MLC1 | Megalencephalic leukoencephalopathy with subcortical cysts-1 |
| PDHA1 | Pyruvate dehydrogenase E1-alpha deficiency |
| POMGNT1 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3 |
| POMT1 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1, B1, C1 |
| POMT2 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2, B2, C2 |
| RELN | Lissencephaly 2 (Norman-Roberts type) |
| RNASET2 | Cystic leukoencephalopathy without megalencephaly |
| SLC12A6 | Agenesis of the corpus callosum with peripheral neuropathy /Andermann syndrome |
| TAF1 | X-linked dystonia-parkinsonism |
| TSEN54 | Pontocerebellar hypoplasia type 2a, 4, 5 |
| VPS13A | Choreoacanthocytosis |
| WFS1 | Wolfram syndrome |
| PSAP | Comb SAP deficiency, Metachromaticleukodystrophy due to SAP-b deficiency, Atypical Krabbe disease, Atypical Gaucher disease |
Gene |
Phenotype in OMIM |
|---|---|
| ABCD1 | Adrenoleukodystrophy |
| ALDH7A1 | Pyridoxine-dependent epilepsy |
| ARX | Early infantile epileptic encephalopathy-1 |
| ASPA | Canavan disease |
| ASPM | Microcephaly |
| ATM | Ataxia telengiectasia |
| ATR | Seckel syndrome 1 |
| ATRX | alpha-thalassemia/mental retardation syndrome |
| CDK5RAP2 | Primary microcephaly-3 |
| CENPJ | Primary microcephaly-6 |
| CEP152 | Primary microcephaly-9 |
| CEP290 | Joubert syndrome |
| CEP290 | Meckel syndrome 4 |
| CSTB | Myoclonic epilepsy of Unverricht and Lundborg |
| CYP27A1 | Cerebrotendinousxanthomatosis |
| EPM2A | myoclonic epilepsy of Lafora |
| FIG4 | Yunis-Varon syndrome |
| FLVCR1 | Posterior column ataxia with retinitis pigmentosa |
| GCH1 | BH4-deficient hyperphenylalaninemia B, dopa-responsive dystonia with or without hyperphenylalaninemia |
| HPRT1 | Lesch-Nyhan syndrome |
| IGBP1 | Corpus callosum with mental retardation, ocular coloboma and micrognathia |
| INPP5E | Joubert syndrome 1 |
| KIF7 | Acrocallosal syndrome, Joubert syndrome-12 |
| MCPH1 | Primary microcephaly-1 |
| MECP2 | Rett syndrome |
| MYO5A | Griscelli syndrome |
| MTTP | Abetalipoproteinemia |
| NGLY1 | Congenital disorder of deglycosylation |
| NHEJ1 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation |
| NHLRC1 | Myoclonic epilepsy of Lafora/ Progressive myoclonic epilepsy-2 |
| NPHP1 | Joubert syndrome 4, Senior-Loken syndrome-1, Nephronophthisis-1 |
| NPHP3 | Meckel syndrome 7, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1 |
| NTRK1 | Congenital insensitivity to pain with anhidrosis |
| OFD1 | Joubert syndrome-10, Orofaciodigital syndrome I, Simpson-Golabi-Behmel syndrome type 2 |
| PEX1 | Heimler syndrome-1, Zellweger syndrome |
| PEX12 | Peroxisome biogenesis disorder |
| PEX7 | Rhizomelic chondrodysplasia punctata type 1 |
| PLP1 | Pelizaeus-Merzbacher disease |
| PNP | Immunodeficiency due to purine nucleoside phosphorylase deficiency |
| PRODH | hyperprolinemia type I |
| PRSS12 | Nonsyndromic mental retardation-1 |
| PTS | Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to PTS deficiency (HPABH4A) |
| QDPR | tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to dihydropteridine reductase deficiency (HPABH4C) |
| RPGRIP1L | COACH syndrome, Joubert syndrome 7, Meckel syndrome 5 |
| SAMHD1 | Aicardi-Goutieres syndrome-5 |
| SERAC1 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) |
| SLC25A22 | Early infantile epileptic encephalopathy-3 |
| ST3GAL3 | Early infantile epileptic encephalopathy-15, nonsyndromic mental retardation-12 |
| STIL | Primary microcephaly-7 |
| TH | Segawa syndrome |
| TIMM8A | Mohr-Tranebjaerg syndrome |
| TMEM216 | Joubert syndrome 2 | Meckel syndrome 2 |
| TMEM67 | Meckel syndrome type 3 |
| TREX1 | Aicardi-Goutieres syndrome-1 |
| TUBA1A | Lissencephaly-3 |
| UGT1A1 | Crigler-Najjar syndrome type I |
| VPS13B | Cohen syndrome |
| WDR62 | primary microcephaly-2 |
Gene |
Phenotype in OMIM |
|---|---|
| CAPN3 | Limb-girdle muscular dystrophy type 2A |
| DMD | Duchenne muscular dystrophy |
| EMD | X-linked Emery-Dreifuss muscular dystrophy-1 |
| EVC | Ellis-van Creveld syndrome |
| EVC2 | Ellis-van Creveld syndrome |
| FKRP | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies |
| FKTN | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies |
| FKTN | Congenital muscular dystrophy-dystroglycanopathy without mental retardation |
| FKTN | Limb-girdle muscular dystrophy-dystroglycanopathy |
| GDAP1 | Charcot-Marie-Tooth disease, type 4A |
| GJB1 | X-linked Charcot-Marie-Tooth disease |
| IKBKAP | Familial dysautonomia |
| LMNA | Charcot-Marie-Tooth type 2B1, Emery-Dreifuss muscular dystrophy-3, Hutchinson-Gilford progeria syndrome, mandibuloacral dysplasia type A, lethal restrictive dermopathy |
| MED25 | Charcot-Marie-Tooth disease type 2B2, Basel-Vanagaite-Smirin-Yosef syndrome |
| MTM1 | X-linked myotubular myopathy-1 |
| MTMR2 | Charcot-Marie-Tooth disease, type 4B1 |
| NDRG1 | Charcot-Marie-Tooth disease type 4D/ Lom type of hereditary motor and sensory neuropathy |
| NEB | Nemaline myopathy-2 |
| NEFL | Charcot-Marie-Tooth disease type 1F |
| PLEKHG5 | Intermediate Charcot-Marie-Tooth disease C, Distal spinal muscular atrophy 4 |
| PRPS1 | Arts syndrome, Charcot-Marie-Tooth disease-5, X-linked deafness-1 |
| PRX | Charcot-Marie-Tooth disease type 4F | Dejerine-Sottas disease |
| SBF2 | Charcot-Marie-Tooth disease type 4B2 |
| SH3TC2 | Charcot-Marie-Tooth disease type 4C |
| SMN1 | Spinal muscular atrophy-1/ 2 |
| SURF1 | Charcot-Marie-Tooth disease type 4K, Leigh syndrome, due to COX IV deficiency |
Gene |
Phenotype in OMIM |
|---|---|
| NKX2-5 | Atrial septal defect 7 with or without AV conduction defects, variable conotruncal heart malformations, hypoplastic left heart syndrome 2, congenital nongoitrous hypothyroidism-5, tetrology of Fallot, ventricular septal defect 3 |
| TSPYL1 | Sudden infant death with dysgenesis of the testes syndrome |
Gene |
Phenotype in OMIM |
|---|---|
| ARL6 | Bardet-Biedl syndrome 3 |
| BBS1 | Bardet-Biedl syndrome 1 |
| BBS10 | Bardet Biedel syndrome 10 |
| C10orf2 | Perrault syndrome 5 |
| DNAH5 | Primary ciliary dyskinesia-3 |
| HSD17B4 | D-bifunctional protein deficiency, Perrault syndrome 1 |
| MKKS | Bardet-Biedl syndrome-6, McKusick-Kaufman syndrome |
Gene |
Phenotype in OMIM |
|---|---|
| ABCA3 | Surfactant metabolism dysfunction-3 |
| DNAH5 | Primary ciliary dyskinesia-3 |
| SERPINA1 | Alpha-1-antitrypsin deficiency |
| SFTPC | Pulmonary surfactant metabolism dysfunction-2 |
Gene |
Phenotype in OMIM |
|---|---|
| ANTXR2 | Hyaline fibromatosis syndrome |
| HSPG2 | Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia |
| IFT80 | Short-rib thoracic dystrophy-2 with or without polydactyly |
| MATN3 | Spondyloepimetaphyseal dysplasia |
| NEK1 | Short-rib thoracic dysplasia-6 with or without polydactyly |
| WISP3 | Progressive pseudorheumatoidarthropathy of childhood |
| EIF2AK3 | Wolcott-Rallison syndrome |
| PEX7 | Rhizomelic chondrodysplasia punctata type 1 |
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