NGS gene list
NGS gene list
Enfermedad | Gen |
---|---|
17-beta-hydroxysteroid dehydrogenase X deficiency | HSD17B10 |
2-methylbutyrylglycinuria | ACADSB |
3-Methylcrotonyl-CoA carboxylase 1 deficiency | MCCC1 |
3-Methylcrotonyl-CoA carboxylase 2 deficiency | MCCC2 |
Aarskog-Scott syndrome, Mental retardation, X-linked syndromic 16 | FGD1 |
Achondrogenesis Ib | SLC26A2 |
Achromatopsia-3 | CNGB3 |
Acyl-CoA dehydrogenase, medium chain, deficiency of | ACADM |
Acyl-CoA dehydrogenase, short-chain, deficiency of | ACADS |
Acyl-CoA dehydrogenase, short-chain, deficiency of | CYP17A1 |
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | CYP21A2 |
Adrenoleukodystrophy | ABCD1 |
Alkaptonuria | HGD |
Allan-Herndon-Dudley syndrome | SLC16A2 |
Alpha-methylacetoacetic aciduria | ACAT1 |
Alpha-thalassemia/mental retardation syndrome | ATRX |
Alport syndrome, autosomal recessive, | COL4A4 related |
Anauxetic dysplasia | RMRP |
Androgen insensitivity | AR |
Argininemia | ARG1 |
Argininosuccinic aciduria | ASL |
Arts Syndrome | PRPS1 |
Aspartylglucosaminuria | AGA |
Ataxia with isolated vitamin E deficiency | TTPA |
Ataxia-telangiectasia | ATM |
Auditory neuropathy, autosomal recessive, 1 | OTOF |
Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia | AIRE |
Autosomal Recessive Polycystic Kidney Disease (ARPKD) | PKHD1 |
Bardet-Biedl syndrome 1 | BBS1 |
Bardet-Biedl syndrome 10 | BBS10 |
Bardet-Biedl syndrome 14, Joubert syndrome 5, Meckel syndrome 4, Senior-Loken syndrome 6 | CEP290 |
Bardet-Biedl syndrome 2 | BBS2 |
Bartter syndrome, type 4a | BSND |
Biotinidase deficiency | BTD |
Bjornstad syndrome | BCS1L |
Canavan disease | ASPA |
Carbamoylphosphate synthetase I deficiency | CPS1 |
Carnitine deficiency, systemic primary | SLC22A5 |
Carnitine-acylcarnitine translocase deficiency | SLC25A20 |
Cerebral creatine deficiency syndrome 1 | SLC6A8 |
Cerebrotendinous xanthomatosis | CYP27A1 |
Ceroid lipofuscinosis, neuronal, 5 | CLN5 |
Ceroid lipofuscinosis, neuronal, 8 | CLN8 |
Ceroid lipofuscinosis, neuronal, 10 | CTSD |
Ceroid lipofuscinosis, neuronal, 3 | CLN3 |
Ceroid lipofuscinosis, neuronal, 6, 601780 | CLN6 |
Ceroid lipofuscinosis, neuronal, 7 | MFSD8 |
Ceroid lipofuscinosis, neuronal, type 1 | PPT1 |
Ceroid lipofuscinosis, neuronal, type 2 | TPP1 |
Charcot-Marie-Tooth disease, type 4B1 | MTMR2 |
Charcot-Marie-Tooth disease, type 4C | SH3TC2 |
Charcot-Marie-Tooth disease, type 4D | NDRG1 |
Charcot-Marie-Tooth Neuropathy Type 4A | GDAP1 |
Cholestasis, benign recurrent intrahepatic, 2 | ABCB11 |
Citrullinemia | ASS1 |
Citrullinemia, neonatal-onset type II | SLC25A13 |
Coffin-Lowry syndrome | RPS6KA3 |
Combined malonic and methylmalonic acidemia | ACSF3 |
Cone rod dystrophy 3 | ABCA4 |
Cone-rod dystrophy, X-linked, 1 | RPGR |
Congenital disorder of glycosylation, type Ia | PMM2 |
Corneal endothelial dystrophy and sensorineural deafness (CDPD) | SLC4A11 |
CPT I (Carnitine Palmitoyltransferase IA) deficiency, hepatic, type IA | CPT1A |
CPT II (Carnitine Palmitoyltransferase) deficiency, lethal neonatal | CPT2 |
CRASH/ MASA syndrome | L1CAM |
Cystathioninuria | CTH |
Cystic fibrosis, Congenital bilateral absence of vas deferens | CFTR |
Cystinosis, atypical nephropathic | CTNS |
Cystinuria | SLC3A1 |
Cystinuria | SLC7A9 |
Deafness, autosomal recessive 1A (DFNB1-related) | GJB2 |
Deafness, autosomal recessive 12 | CDH23 |
Deafness, autosomal recessive 18A | USH1C |
Deafness, autosomal recessive 23 | PCDH15 |
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | SLC26A4 |
Deafness, digenic GJB2/GJB3 | GJB3 |
Dent disease 2 | OCRL |
Dihydrolipoamide dehydrogenase deficiency | DLD |
Duchenne muscular dystrophy, Becker muscular dystrophy | DMD |
Dysprothrombinemia, Prothrombin thrombophilia / Factor II deficiency | F2 |
Ehlers-Danlos syndrome, type VI | PLOD1 |
Ellis-van Creveld Syndrome | EVC2 |
Emphysema due to Alpha1 Anti-Trypsin deficiency | SERPINA1 |
Epidermolysis bullosa dystrophica, AR | COL7A1 |
Epidermolysis bullosa, junctional, Herlitz type | LAMB3 |
Epilepsy, X-linked, with variable learning disabilities and behavior disorders | SYN1 |
Epileptic encephalopathy, early infantile, 1 | ARX |
Ethylmalonic encephalopathy | ETHE1 |
Fabry disease | GLA |
Factor V Deficiency | F5 |
Factor XI deficiency, autosomal recessive | F11 |
Familial Mediterranean fever, autosomal recessive | MEFV |
Fanconi anemia | FANCA |
Fanconi anemia, complementation group C | FANCC |
Folate malabsorption, hereditary | SLC46A1 |
Fragile X syndrome | FMR1 |
Friedreich ataxia with retained reflexes | FXN |
Fructose intolerance | ALDOB |
Fumarase deficiency | FH |
G6PD deficiency / Favism | G6PD |
Galactokinase deficiency with cataracts | GALK1 |
Galactose epimerase deficiency | GALE |
Galactosemia | GALT |
Gaucher disease, perinatal lethal | GBA |
Glutamate formiminotransferase deficiency | FTCD |
Glutaric acidemia IIA | ETFA |
Glutaric acidemia IIB | ETFB |
Glutaric acidemia IIC | ETFDH |
Glutaric aciduria, type I | GCDH |
Glycine encephalopathy | AMT |
Glycine encephalopathy | GLDC |
Glycogen storage disease Ia | G6PC |
Glycogen storage disease Ib | SLC37A4 |
Glycogen storage disease II / Pompe disease | GAA |
Glycogen storage disease IIIa | AGL |
Glycogen storage disease IV | GBE1 |
GM1-gangliosidosis, types I, II, III | GLB1 |
Goldmann-Favre syndrome | NR2E3 |
HARP syndrome | PANK2 |
Hartnup disorder | SLC6A19 |
Heimler syndrome, type 2 | PEX6 |
Hemochromatosis, type 3 | TFR2 |
Hemochromatosis: Type 2A: HFE2 Related | HFE2 |
Hemophilia A, factor VIII deficiency, X-linked | F8 |
Hemophilia B, factor IX deficiency | F9 |
Herlitz Junctional Epidermolysis Bullosa: LAMC2 Related | LAMC2 |
Histidinemia | HAL |
HMG-CoA lyase deficiency | HMGCL |
Holocarboxylase synthetase deficiency | HLCS |
Homocystinuria, B6-responsive and nonresponsive types | CBS |
Homocystinuria-megaloblastic anemia, cbl E type | MTRR |
Hypercholesterolemia, familial | LDLR |
Hypercholesterolemia, familial, autosomal recessive | LDLRAP1 |
Hyperinsulinemic hypoglycemia, familial, type 2 | KCNJ11 |
Hypermethioninemia due to adenosine kinase deficiency | ADK |
Hypermethioninemia due to Glycine N-methyltransferase deficiency | GNMT |
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | AHCY |
Hypermethioninemia, persistent, due to MAT1 deficiency | MAT1A |
Hyperoxaluria III | HOGA1 |
Hyperoxaluria, primary, type I | AGXT |
Hyperoxaluria, primary, type II | GRHPR |
Hyperphenylalaninemia, BH4-deficient, A | PTS |
Hyperphenylalaninemia, BH4-deficient, C | QDPR |
Hyperphenylalaninemia, BH4-deficient, D | PCBD1 |
Hyperprolinemia, type II | ALDH4A1 |
Hypogonadotropic hypogonadism 7 without anosmia | GNRHR |
Hypothryoidism, congenital, nongoitrous 4 | TSHB |
Hypothyroidism, congenital, nongoitrous 1 | TSHR |
Ichthyosis, congenital, autosomal recessive 1 | TGM1 |
Immunodeficiency, X-linked, with hyper-IgM | CD40LG |
Isovaleric acidemia | IVD |
Joubert syndrome 2 | TMEM216 |
Joubert syndrome 4 | NPHP1 |
Joubert syndrome 8 | ARL13B |
Joubert syndrome-3 | AHI1 |
Krabbe disease | GALC |
LCHAD deficiency | HADHA |
Leber congenital amaurosis 13 | RDH12 |
Leber congenital amaurosis 2 | RPE65 |
Leber congenital amaurosis 8 | CRB1 |
Leber congenital amaurosis-1 | GUCY2D |
Leber congenital amaurosis-4 | AIPL1 |
Leigh syndrome, French-Canadian type | LRPPRC |
Leigh syndrome, due to COX deficiency | SURF1 |
limb-girdle muscular dystrophy type 2B | DYSF |
Lipoid adrenal hyperplasia | STAR |
Lissencephaly, X-linked | DCX |
Macular corneal dystrophy | CHST6 |
Malonyl-CoA decarboxylase deficiency, 248360 | MLYCD |
Mannosidosis, alpha-, types I and II | MAN2B1 |
Maple syrup urine disease, type II | DBT |
Maple syrup urine disease, type Ia | BCKDHA |
Maple syrup urine disease, type Ib | BCKDHB |
McArdle disease / Glycogen Storage Disease: Type V | PYGM |
Meckel syndrome 1 | MKS1 |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia | CASK |
Mental retardation syndrome, X-linked, Siderius type | PHF8 |
Mental retardation, X-linked | OPHN1 |
Mental retardation, X-linked 1/78 | IQSEC2 |
Mental retardation, X-linked 12/35 | THOC2 |
Mental retardation, X-linked 21/34 | IL1RAPL1 |
Mental retardation, X-linked 30/47 | PAK3 |
Mental retardation, X-linked 41 | GDI1 |
Mental retardation, X-linked 58 | TSPAN7 |
Mental retardation, X-linked 63 | ACSL4 |
Mental retardation, X-linked 9 | FTSJ1 |
Mental retardation, X-linked 90 | DLG3 |
Mental retardation, X-linked 94 | GRIA3 |
Mental retardation, X-linked 97 | ZNF711 |
Mental retardation, X-linked 99 | USP9X |
Mental retardation, X-linked syndromic 5 | AP1S2 |
Mental retardation, X-linked syndromic, Raymond type | ZDHHC9 |
Mental retardation, X-linked syndromic, Turner type | HUWE1 |
Mental retardation, X-linked, Asperger syndrome susceptibility, X-linked | NLGN4X |
Mental retardation, X-linked, FRAXE type | AFF2 |
Mental retardation, X-linked, syndromic 13 | MECP2 |
Mental retardation, X-linked, syndromic 14 | UPF3B |
Mental retardation, X-linked, syndromic 15 | CUL4B |
Mental retardation, X-linked, syndromic, Claes-Jensen type | KDM5C |
Metachromatic leukodystrophy | ARSA |
Methylmalonic aciduria and homocystinuria, cblC type | MMACHC |
Methylmalonic aciduria and homocystinuria, cblD type | MMADHC |
Methylmalonic aciduria and homocystinuria, cblF type | LMBRD1 |
Methylmalonic aciduria, vitamin B12-responsive, cbIB type | MMAB |
Methylmalonic aciduria, vitamin B12-responsive, cblA type | MMAA |
Methylmalonic aciduria, mut(0) type | MUT |
Methylmalonic and propionic acidemia and homocystinuria, cbIJ type | ABCD4 |
Methylmalonyl-CoA epimerase deficiency | MCEE |
Mevalonic aciduria | MVK |
Microphthalmia, isolated 3 | RAX |
MTHFR Deficiency | MTHFR |
Mucolipidosis III alpha/beta, and type II | GNPTAB |
Mucolipidosis IV | MCOLN1 |
Mucopolysaccharidosis Ih / Hurler Syndrome | IDUA |
Mucopolysaccharidosis II / Hunter Syndrome: X-linked | IDS |
Mucopolysaccharidosis IVA | GALNS |
Mucopolysaccharidosis type IIIA (Sanfilippo A) | SGSH |
Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 | NAGLU |
Mucopolysaccharidosis type IIIC (Sanfilippo C) | HGSNAT |
Mucopolysaccharidosis type IIID | GNS |
Mucopolysaccharidosis type VI (Maroteaux-Lamy) | ARSB |
Muscular dystrophy, limb-girdle, 2A | CAPN3 |
Muscular dystrophy, limb-girdle, type 2D | SGCA |
Muscular dystrophy, limb-girdle, type 2E | SGCB |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) | 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 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 | FKRP |
Myotonia congenita, dominant | CLCN1 |
Nemaline myopathy 2, autosomal recessive | NEB |
Nephrotic syndrome, type 1 (Finnish Type) | NPHS1 |
Neutropenia, severe congenital 3, autosomal recessive | HAX1 |
Niemann-Pick disease, type A | SMPD1 |
Niemann-Pick Disease, Type C2 | NPC2 |
Niemann-Pick Disease: Type C1 | NPC1 |
Nijmegen breakage syndrome | NBN |
Norrie disease | NDP |
Nystagmus 6, congenital, X-linked | GPR143 |
Ornithine transcarbamylase deficiency | OTC |
Osteogenesis imperfecta, type VIII | P3H1 |
Pelizaeus-Merzbacher disease, 312080 | PLP1 |
Peroxisomal acyl-CoA oxidase deficiency | ACOX1 |
Peroxisome biogenesis disorde 6A, Zellweger syndrome | PEX10 |
Peroxisome biogenesis disorder 1A, Zellweger syndrome-1 | PEX1 |
Phenylketonuria | PAH |
Phosphoglycerate kinase 1 deficiency | PGK1 |
Pituitary hormone deficiency, combined, 2 | PROP1 |
Primary ciliary dyskinesia | DNAH5 |
Propionic acidemia | PCCA |
Propionic acidemia | PCCB |
Pyruvate carboxylase deficiency | PC |
Pyruvate dehydrogenase E1-beta deficiency | PDHB |
Renpenning syndrome | PQBP1 |
Retinitis pigmentosa 2 | RP2 |
Retinitis pigmentosa 25 | EYS |
Retinitis pigmentosa 26 | CERKL |
Retinitis pigmentosa 39 | USH2A |
Retinitis pigmentosa 43 | PDE6A |
Retinitis pigmentosa 45 | CNGB1 |
Retinitis pigmentosa 46 | IDH3B |
Retinitis pigmentosa 49 | CNGA1 |
Retinitis pigmentosa 59 | DHDDS |
Retinoschisis: X-linked | RS1 |
Rhizomelic chondrodysplasia punctata, type 1; Peroxisome biogenesis disorder | PEX7 |
Rhizomelic chondrodysplasia punctata, type 3 | AGPS |
Sandhoff disease, infantile, juvenile, and adult forms | HEXB |
SCID, autosomal recessive, T-negative/B-positive type | JAK3 |
Segawa syndrome, recessive (tyrosine hydroxylase deficiency) | TH |
Severe combined immunodeficiency due to ADA deficiency | ADA |
Severe combined immunodeficiency, X-linked | IL2RG |
Smith-Lemli-Opitz syndrome | DHCR7 |
Spastic ataxia, Charlevoix-Saguenay type (ARSACS) | SACS |
Spastic paraplegia 11, autosomal recessive | SPG11 |
Spastic paraplegia 7, autosomal recessive | SPG7 |
Spinalmuscle atrophy (several types) | SMN1 |
Tay-Sachs disease, GM2-gangliosidisus, several forms | HEXA |
Thalassemia, alpha- | HBA1 |
Thalassemia, alpha- | HBA2 |
Thalassemias, beta- (Sickle Cell Anemia) | HBB |
Thrombocytopenia, congenital amegakaryocytic | MPL |
Thryoid dyshormonogenesis 6 | DUOX2 |
Thyroid dyshormonogenesis 1 | SLC5A5 |
Thyroid dyshormonogenesis 2A | TPO |
Thyroid dyshormonogenesis 3 | TG |
Thyroid dyshormonogenesis 4 | IYD |
Thyroid dyshormonogenesis 5 | DUOXA2 |
Thyroid hormone resistance | THRB |
Treacher Collins syndrome 3 | POLR1C |
Trifunctional protein deficiency | HADHB |
Tyrosinemia, type I | FAH |
Tyrosinemia, type II | TAT |
Usher syndrome, type 1B; Deafness, autosomal dominant 11 | MYO7A |
Usher syndrome, type 1G | USH1G |
Usher syndrome, type 2D / Deafness, autosomal recessive 31 | WHRN |
Usher syndrome, type 3A | CLRN1 |
Ventricular tachycardia, catecholaminergic polymorphic, 2 | CASQ2 |
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 | TRDN |
VLCAD deficiency | ACADVL |
Walker-Warburg syndrome (congenital with brain and eye anomalies) | FKTN |
Wilson disease | ATP7B |
Wolman disease (lysosomal acid lipase deficiency) | LIPA |
X-linked mental retardation (XLMR) associated with macrocephaly | BRWD3 |
X-linked mixed deafness with perilymphatic gusher | POU3F4 |
Enfermedad | Gen |
---|---|
17-beta-hydroxysteroid dehydrogenase X deficiency | HSD17B10 |
2-methylbutyrylglycinuria | ACADSB |
3-Methylcrotonyl-CoA carboxylase 1 deficiency | MCCC1 |
3-Methylcrotonyl-CoA carboxylase 2 deficiency | MCCC2 |
Aarskog-Scott syndrome, Mental retardation, X-linked syndromic 16 | FGD1 |
Achondrogenesis Ib | SLC26A2 |
Achromatopsia-3 | CNGB3 |
Acyl-CoA dehydrogenase, medium chain, deficiency of | ACADM |
Acyl-CoA dehydrogenase, short-chain, deficiency of | ACADS |
Acyl-CoA dehydrogenase, short-chain, deficiency of | CYP17A1 |
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | CYP21A2 |
Adrenoleukodystrophy | ABCD1 |
Alkaptonuria | HGD |
Allan-Herndon-Dudley syndrome | SLC16A2 |
Alpha-methylacetoacetic aciduria | ACAT1 |
Alpha-thalassemia/mental retardation syndrome | ATRX |
Alport syndrome, autosomal recessive, | COL4A4 related |
Anauxetic dysplasia | RMRP |
Androgen insensitivity | AR |
Argininemia | ARG1 |
Argininosuccinic aciduria | ASL |
Arts Syndrome | PRPS1 |
Aspartylglucosaminuria | AGA |
Ataxia with isolated vitamin E deficiency | TTPA |
Ataxia-telangiectasia | ATM |
Auditory neuropathy, autosomal recessive, 1 | OTOF |
Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia | AIRE |
Autosomal Recessive Polycystic Kidney Disease (ARPKD) | PKHD1 |
Bardet-Biedl syndrome 1 | BBS1 |
Bardet-Biedl syndrome 10 | BBS10 |
Bardet-Biedl syndrome 14, Joubert syndrome 5, Meckel syndrome 4, Senior-Loken syndrome 6 | CEP290 |
Bardet-Biedl syndrome 2 | BBS2 |
Bartter syndrome, type 4a | BSND |
Biotinidase deficiency | BTD |
Bjornstad syndrome | BCS1L |
Canavan disease | ASPA |
Carbamoylphosphate synthetase I deficiency | CPS1 |
Carnitine deficiency, systemic primary | SLC22A5 |
Carnitine-acylcarnitine translocase deficiency | SLC25A20 |
Cerebral creatine deficiency syndrome 1 | SLC6A8 |
Cerebrotendinous xanthomatosis | CYP27A1 |
Ceroid lipofuscinosis, neuronal, 5 | CLN5 |
Ceroid lipofuscinosis, neuronal, 8 | CLN8 |
Ceroid lipofuscinosis, neuronal, 10 | CTSD |
Ceroid lipofuscinosis, neuronal, 3 | CLN3 |
Ceroid lipofuscinosis, neuronal, 6, 601780 | CLN6 |
Ceroid lipofuscinosis, neuronal, 7 | MFSD8 |
Ceroid lipofuscinosis, neuronal, type 1 | PPT1 |
Ceroid lipofuscinosis, neuronal, type 2 | TPP1 |
Charcot-Marie-Tooth disease, type 4B1 | MTMR2 |
Charcot-Marie-Tooth disease, type 4C | SH3TC2 |
Charcot-Marie-Tooth disease, type 4D | NDRG1 |
Charcot-Marie-Tooth Neuropathy Type 4A | GDAP1 |
Cholestasis, benign recurrent intrahepatic, 2 | ABCB11 |
Citrullinemia | ASS1 |
Citrullinemia, neonatal-onset type II | SLC25A13 |
Coffin-Lowry syndrome | RPS6KA3 |
Combined malonic and methylmalonic acidemia | ACSF3 |
Cone rod dystrophy 3 | ABCA4 |
Cone-rod dystrophy, X-linked, 1 | RPGR |
Congenital disorder of glycosylation, type Ia | PMM2 |
Corneal endothelial dystrophy and sensorineural deafness (CDPD) | SLC4A11 |
CPT I (Carnitine Palmitoyltransferase IA) deficiency, hepatic, type IA | CPT1A |
CPT II (Carnitine Palmitoyltransferase) deficiency, lethal neonatal | CPT2 |
CRASH/ MASA syndrome | L1CAM |
Cystathioninuria | CTH |
Cystic fibrosis, Congenital bilateral absence of vas deferens | CFTR |
Cystinosis, atypical nephropathic | CTNS |
Cystinuria | SLC3A1 |
Cystinuria | SLC7A9 |
Deafness, autosomal recessive 1A (DFNB1-related) | GJB2 |
Deafness, autosomal recessive 12 | CDH23 |
Deafness, autosomal recessive 18A | USH1C |
Deafness, autosomal recessive 23 | PCDH15 |
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | SLC26A4 |
Deafness, digenic GJB2/GJB3 | GJB3 |
Dent disease 2 | OCRL |
Dihydrolipoamide dehydrogenase deficiency | DLD |
Duchenne muscular dystrophy, Becker muscular dystrophy | DMD |
Dysprothrombinemia, Prothrombin thrombophilia / Factor II deficiency | F2 |
Ehlers-Danlos syndrome, type VI | PLOD1 |
Ellis-van Creveld Syndrome | EVC2 |
Emphysema due to Alpha1 Anti-Trypsin deficiency | SERPINA1 |
Epidermolysis bullosa dystrophica, AR | COL7A1 |
Epidermolysis bullosa, junctional, Herlitz type | LAMB3 |
Epilepsy, X-linked, with variable learning disabilities and behavior disorders | SYN1 |
Epileptic encephalopathy, early infantile, 1 | ARX |
Ethylmalonic encephalopathy | ETHE1 |
Fabry disease | GLA |
Factor V Deficiency | F5 |
Factor XI deficiency, autosomal recessive | F11 |
Familial Mediterranean fever, autosomal recessive | MEFV |
Fanconi anemia | FANCA |
Fanconi anemia, complementation group C | FANCC |
Folate malabsorption, hereditary | SLC46A1 |
Fragile X syndrome | FMR1 |
Friedreich ataxia with retained reflexes | FXN |
Fructose intolerance | ALDOB |
Fumarase deficiency | FH |
G6PD deficiency / Favism | G6PD |
Galactokinase deficiency with cataracts | GALK1 |
Galactose epimerase deficiency | GALE |
Galactosemia | GALT |
Gaucher disease, perinatal lethal | GBA |
Glutamate formiminotransferase deficiency | FTCD |
Glutaric acidemia IIA | ETFA |
Glutaric acidemia IIB | ETFB |
Glutaric acidemia IIC | ETFDH |
Glutaric aciduria, type I | GCDH |
Glycine encephalopathy | AMT |
Glycine encephalopathy | GLDC |
Glycogen storage disease Ia | G6PC |
Glycogen storage disease Ib | SLC37A4 |
Glycogen storage disease II / Pompe disease | GAA |
Glycogen storage disease IIIa | AGL |
Glycogen storage disease IV | GBE1 |
GM1-gangliosidosis, types I, II, III | GLB1 |
Goldmann-Favre syndrome | NR2E3 |
HARP syndrome | PANK2 |
Hartnup disorder | SLC6A19 |
Heimler syndrome, type 2 | PEX6 |
Hemochromatosis, type 3 | TFR2 |
Hemochromatosis: Type 2A: HFE2 Related | HFE2 |
Hemophilia A, factor VIII deficiency, X-linked | F8 |
Hemophilia B, factor IX deficiency | F9 |
Herlitz Junctional Epidermolysis Bullosa: LAMC2 Related | LAMC2 |
Histidinemia | HAL |
HMG-CoA lyase deficiency | HMGCL |
Holocarboxylase synthetase deficiency | HLCS |
Homocystinuria, B6-responsive and nonresponsive types | CBS |
Homocystinuria-megaloblastic anemia, cbl E type | MTRR |
Hypercholesterolemia, familial | LDLR |
Hypercholesterolemia, familial, autosomal recessive | LDLRAP1 |
Hyperinsulinemic hypoglycemia, familial, type 2 | KCNJ11 |
Hypermethioninemia due to adenosine kinase deficiency | ADK |
Hypermethioninemia due to Glycine N-methyltransferase deficiency | GNMT |
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | AHCY |
Hypermethioninemia, persistent, due to MAT1 deficiency | MAT1A |
Hyperoxaluria III | HOGA1 |
Hyperoxaluria, primary, type I | AGXT |
Hyperoxaluria, primary, type II | GRHPR |
Hyperphenylalaninemia, BH4-deficient, A | PTS |
Hyperphenylalaninemia, BH4-deficient, C | QDPR |
Hyperphenylalaninemia, BH4-deficient, D | PCBD1 |
Hyperprolinemia, type II | ALDH4A1 |
Hypogonadotropic hypogonadism 7 without anosmia | GNRHR |
Hypothryoidism, congenital, nongoitrous 4 | TSHB |
Hypothyroidism, congenital, nongoitrous 1 | TSHR |
Ichthyosis, congenital, autosomal recessive 1 | TGM1 |
Immunodeficiency, X-linked, with hyper-IgM | CD40LG |
Isovaleric acidemia | IVD |
Joubert syndrome 2 | TMEM216 |
Joubert syndrome 4 | NPHP1 |
Joubert syndrome 8 | ARL13B |
Joubert syndrome-3 | AHI1 |
Krabbe disease | GALC |
LCHAD deficiency | HADHA |
Leber congenital amaurosis 13 | RDH12 |
Leber congenital amaurosis 2 | RPE65 |
Leber congenital amaurosis 8 | CRB1 |
Leber congenital amaurosis-1 | GUCY2D |
Leber congenital amaurosis-4 | AIPL1 |
Leigh syndrome, French-Canadian type | LRPPRC |
Leigh syndrome, due to COX deficiency | SURF1 |
limb-girdle muscular dystrophy type 2B | DYSF |
Lipoid adrenal hyperplasia | STAR |
Lissencephaly, X-linked | DCX |
Macular corneal dystrophy | CHST6 |
Malonyl-CoA decarboxylase deficiency, 248360 | MLYCD |
Mannosidosis, alpha-, types I and II | MAN2B1 |
Maple syrup urine disease, type II | DBT |
Maple syrup urine disease, type Ia | BCKDHA |
Maple syrup urine disease, type Ib | BCKDHB |
McArdle disease / Glycogen Storage Disease: Type V | PYGM |
Meckel syndrome 1 | MKS1 |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia | CASK |
Mental retardation syndrome, X-linked, Siderius type | PHF8 |
Mental retardation, X-linked | OPHN1 |
Mental retardation, X-linked 1/78 | IQSEC2 |
Mental retardation, X-linked 12/35 | THOC2 |
Mental retardation, X-linked 21/34 | IL1RAPL1 |
Mental retardation, X-linked 30/47 | PAK3 |
Mental retardation, X-linked 41 | GDI1 |
Mental retardation, X-linked 58 | TSPAN7 |
Mental retardation, X-linked 63 | ACSL4 |
Mental retardation, X-linked 9 | FTSJ1 |
Mental retardation, X-linked 90 | DLG3 |
Mental retardation, X-linked 94 | GRIA3 |
Mental retardation, X-linked 97 | ZNF711 |
Mental retardation, X-linked 99 | USP9X |
Mental retardation, X-linked syndromic 5 | AP1S2 |
Mental retardation, X-linked syndromic, Raymond type | ZDHHC9 |
Mental retardation, X-linked syndromic, Turner type | HUWE1 |
Mental retardation, X-linked, Asperger syndrome susceptibility, X-linked | NLGN4X |
Mental retardation, X-linked, FRAXE type | AFF2 |
Mental retardation, X-linked, syndromic 13 | MECP2 |
Mental retardation, X-linked, syndromic 14 | UPF3B |
Mental retardation, X-linked, syndromic 15 | CUL4B |
Mental retardation, X-linked, syndromic, Claes-Jensen type | KDM5C |
Metachromatic leukodystrophy | ARSA |
Methylmalonic aciduria and homocystinuria, cblC type | MMACHC |
Methylmalonic aciduria and homocystinuria, cblD type | MMADHC |
Methylmalonic aciduria and homocystinuria, cblF type | LMBRD1 |
Methylmalonic aciduria, vitamin B12-responsive, cbIB type | MMAB |
Methylmalonic aciduria, vitamin B12-responsive, cblA type | MMAA |
Methylmalonic aciduria, mut(0) type | MUT |
Methylmalonic and propionic acidemia and homocystinuria, cbIJ type | ABCD4 |
Methylmalonyl-CoA epimerase deficiency | MCEE |
Mevalonic aciduria | MVK |
Microphthalmia, isolated 3 | RAX |
MTHFR Deficiency | MTHFR |
Mucolipidosis III alpha/beta, and type II | GNPTAB |
Mucolipidosis IV | MCOLN1 |
Mucopolysaccharidosis Ih / Hurler Syndrome | IDUA |
Mucopolysaccharidosis II / Hunter Syndrome: X-linked | IDS |
Mucopolysaccharidosis IVA | GALNS |
Mucopolysaccharidosis type IIIA (Sanfilippo A) | SGSH |
Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 | NAGLU |
Mucopolysaccharidosis type IIIC (Sanfilippo C) | HGSNAT |
Mucopolysaccharidosis type IIID | GNS |
Mucopolysaccharidosis type VI (Maroteaux-Lamy) | ARSB |
Muscular dystrophy, limb-girdle, 2A | CAPN3 |
Muscular dystrophy, limb-girdle, type 2D | SGCA |
Muscular dystrophy, limb-girdle, type 2E | SGCB |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) | 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 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 | FKRP |
Myotonia congenita, dominant | CLCN1 |
Nemaline myopathy 2, autosomal recessive | NEB |
Nephrotic syndrome, type 1 (Finnish Type) | NPHS1 |
Neutropenia, severe congenital 3, autosomal recessive | HAX1 |
Niemann-Pick disease, type A | SMPD1 |
Niemann-Pick Disease, Type C2 | NPC2 |
Niemann-Pick Disease: Type C1 | NPC1 |
Nijmegen breakage syndrome | NBN |
Norrie disease | NDP |
Nystagmus 6, congenital, X-linked | GPR143 |
Ornithine transcarbamylase deficiency | OTC |
Osteogenesis imperfecta, type VIII | P3H1 |
Pelizaeus-Merzbacher disease, 312080 | PLP1 |
Peroxisomal acyl-CoA oxidase deficiency | ACOX1 |
Peroxisome biogenesis disorde 6A, Zellweger syndrome | PEX10 |
Peroxisome biogenesis disorder 1A, Zellweger syndrome-1 | PEX1 |
Phenylketonuria | PAH |
Phosphoglycerate kinase 1 deficiency | PGK1 |
Pituitary hormone deficiency, combined, 2 | PROP1 |
Primary ciliary dyskinesia | DNAH5 |
Propionic acidemia | PCCA |
Propionic acidemia | PCCB |
Pyruvate carboxylase deficiency | PC |
Pyruvate dehydrogenase E1-beta deficiency | PDHB |
Renpenning syndrome | PQBP1 |
Retinitis pigmentosa 2 | RP2 |
Retinitis pigmentosa 25 | EYS |
Retinitis pigmentosa 26 | CERKL |
Retinitis pigmentosa 39 | USH2A |
Retinitis pigmentosa 43 | PDE6A |
Retinitis pigmentosa 45 | CNGB1 |
Retinitis pigmentosa 46 | IDH3B |
Retinitis pigmentosa 49 | CNGA1 |
Retinitis pigmentosa 59 | DHDDS |
Retinoschisis: X-linked | RS1 |
Rhizomelic chondrodysplasia punctata, type 1; Peroxisome biogenesis disorder | PEX7 |
Rhizomelic chondrodysplasia punctata, type 3 | AGPS |
Sandhoff disease, infantile, juvenile, and adult forms | HEXB |
SCID, autosomal recessive, T-negative/B-positive type | JAK3 |
Segawa syndrome, recessive (tyrosine hydroxylase deficiency) | TH |
Severe combined immunodeficiency due to ADA deficiency | ADA |
Severe combined immunodeficiency, X-linked | IL2RG |
Smith-Lemli-Opitz syndrome | DHCR7 |
Spastic ataxia, Charlevoix-Saguenay type (ARSACS) | SACS |
Spastic paraplegia 11, autosomal recessive | SPG11 |
Spastic paraplegia 7, autosomal recessive | SPG7 |
Spinalmuscle atrophy (several types) | SMN1 |
Tay-Sachs disease, GM2-gangliosidisus, several forms | HEXA |
Thalassemia, alpha- | HBA1 |
Thalassemia, alpha- | HBA2 |
Thalassemias, beta- (Sickle Cell Anemia) | HBB |
Thrombocytopenia, congenital amegakaryocytic | MPL |
Thryoid dyshormonogenesis 6 | DUOX2 |
Thyroid dyshormonogenesis 1 | SLC5A5 |
Thyroid dyshormonogenesis 2A | TPO |
Thyroid dyshormonogenesis 3 | TG |
Thyroid dyshormonogenesis 4 | IYD |
Thyroid dyshormonogenesis 5 | DUOXA2 |
Thyroid hormone resistance | THRB |
Treacher Collins syndrome 3 | POLR1C |
Trifunctional protein deficiency | HADHB |
Tyrosinemia, type I | FAH |
Tyrosinemia, type II | TAT |
Usher syndrome, type 1B; Deafness, autosomal dominant 11 | MYO7A |
Usher syndrome, type 1G | USH1G |
Usher syndrome, type 2D / Deafness, autosomal recessive 31 | WHRN |
Usher syndrome, type 3A | CLRN1 |
Ventricular tachycardia, catecholaminergic polymorphic, 2 | CASQ2 |
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 | TRDN |
VLCAD deficiency | ACADVL |
Walker-Warburg syndrome (congenital with brain and eye anomalies) | FKTN |
Wilson disease | ATP7B |
Wolman disease (lysosomal acid lipase deficiency) | LIPA |
X-linked mental retardation (XLMR) associated with macrocephaly | BRWD3 |
X-linked mixed deafness with perilymphatic gusher | POU3F4 |