* X-Linked Conditions ^ Autosomal Dominant Conditions
Condition | Gene | ||
---|---|---|---|
Core Carrier Screening | Comprehensive Carrier Screening | Cystic fibrosis | CFTR |
Fragile X syndrome* | FMR1 | ||
Spinal muscular atrophy | SMN1 | ||
3-hydroxy-3-methylglutaryl-CoA lyase deficiency | HMGCL | ||
ABCB11-related conditions | ABCB11 | ||
ABCC8-related conditions | ABCC8 | ||
Abetalipoproteinemia | MTTP | ||
Achromatopsia (CNGB3-related) | CNGB3 | ||
ACOX1-related conditions | ACOX1 | ||
Acrodermatitis enteropathica | SLC39A4 | ||
Adenosine deaminase deficiency | ADA | ||
Aicardi-Goutieres syndrome 5 | SAMHD1 | ||
Aldosterone synthase deficiency | CYP11B2 | ||
Alpha-mannosidosis | MAN2B1 | ||
Alpha-thalassemia | HBA1/HBA2 | ||
Alpha-thalassemia X-linked intellectual disability syndrome* | ATRX | ||
Alport syndrome (COL4A3-related) | COL4A3 | ||
Alport syndrome (COL4A4-related) | COL4A4 | ||
Alport syndrome (COL4A5-related)* | COL4A5 | ||
Alström syndrome | ALMS1 | ||
Arginase deficiency | ARG1 | ||
Argininosuccinate lyase deficiency | ASL | ||
Aromatase deficiency | CYP19A1 | ||
Asparagine synthetase deficiency | ASNS | ||
Aspartylglucosaminuria | AGA | ||
Ataxia with vitamin E deficiency | TTPA | ||
ATM-related conditions | ATM | ||
ATP7A-related conditions* | ATP7A | ||
Autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia | AIRE | ||
Autosomal recessive congenital ichthyosis (TGM1-related) | TGM1 | ||
Autosomal recessive spastic ataxia of Charlevoix-Saguenay | SACS | ||
Bardet-Biedl syndrome (BBS10-related) | BBS10 | ||
Bardet-Biedl syndrome (BBS12-related) | BBS12 | ||
BBS1-related conditions | BBS1 | ||
BBS2-related conditions | BBS2 | ||
BCS1L-related conditions | BCS1L | ||
Beta-ketothiolase deficiency | ACAT1 | ||
Biopterin-deficient hyperphenylalaninemia (PTS-related) | PTS | ||
Bloom syndrome | BLM | ||
BSND-related conditions | BSND | ||
Canavan disease | ASPA | ||
Carbamoyl phosphate synthetase I deficiency | CPS1 | ||
Carnitine palmitoyltransferase I deficiency | CPT1A | ||
Carnitine palmitoyltransferase II deficiency | CPT2 | ||
Carpenter syndrome (RAB23-related) | RAB23 | ||
Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders | RMRP | ||
CDH23-related conditions | CDH23 | ||
CEP290-related conditions | CEP290 | ||
Cerebrotendinous xanthomatosis | CYP27A1 | ||
CERKL-related conditions | CERKL | ||
Charcot-Marie-Tooth disease type 1X* | GJB1 | ||
Chorea-acanthocytosis | VPS13A | ||
Choroideremia* | CHM | ||
Chronic granulomatous disease (CYBA-related) | CYBA | ||
Chronic granulomatous disease (CYBB-related)* | CYBB | ||
Citrin deficiency | SLC25A13 | ||
Citrullinemia type 1 | ASS1 | ||
CLN3-related conditions | CLN3 | ||
CLRN1-related conditions | CLRN1 | ||
Cobalamin C deficiency | MMACHC | ||
Cobalamin D deficiency | MMADHC | ||
Cockayne syndrome A | ERCC8 | ||
Cockayne syndrome B | ERCC6 | ||
Cohen syndrome | VPS13B | ||
Combined malonic and methylmalonic aciduria | ACSF3 | ||
Combined oxidative phosphorylation deficiency 1 | GFM1 | ||
Combined oxidative phosphorylation deficiency 3 | TSFM | ||
Combined pituitary hormone deficiency (LHX3-related) | LHX3 | ||
Combined pituitary hormone deficiency (PROP1-related) | PROP1 | ||
Congenital adrenal hyperplasia due to 3-beta- hydroxysteroid dehydrogenase deficiency | HSD3B2 | ||
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency | CYP21A2 | ||
Congenital disorder of glycosylation (SLC35A3-related) | SLC35A3 | ||
Congenital disorder of glycosylation type Ia | PMM2 | ||
Congenital disorder of glycosylation type Ib | MPI | ||
Congenital disorder of glycosylation type Ic | ALG6 | ||
Congenital insensitivity to pain with anhidrosis | NTRK1 | ||
Congenital myasthenic syndrome (CHRNE-related) | CHRNE | ||
Congenital nephrotic syndrome type 1 | NPHS1 | ||
Congenital nephrotic syndrome type 2 | NPHS2 | ||
Corneal dystrophy and perceptive deafness | SLC4A11 | ||
CRB1-related conditions | CRB1 | ||
CYP11B1-related conditions | CYP11B1 | ||
CYP17A1-related conditions | CYP17A1 | ||
Cystinosis | CTNS | ||
DHDDS-related conditions | DHDDS | ||
Dihydrolipoamide dehydrogenase deficiency | DLD | ||
Distal renal tubular acidosis with deafness (ATP6V1B1-related) | ATP6V1B1 | ||
DMD-related conditions* | DMD | ||
DYSF-related conditions | DYSF | ||
Dyskeratosis congenita spectrum disorders (RTEL1-related) | RTEL1 | ||
Dystrophic epidermolysis bullosa | COL7A1 | ||
EDA-related conditions* | EDA | ||
Ehlers-Danlos syndrome, dermatosparaxis type | ADAMTS2 | ||
Ellis-van Creveld syndrome (EVC-related) | EVC | ||
Emery-Dreifuss muscular dystrophy (EMD-related)* | EMD | ||
Ethylmalonic encephalopathy | ETHE1 | ||
EVC2-related conditions | EVC2 | ||
Fabry disease* | GLA | ||
Factor IX deficiency (hemophilia B)* | F9 | ||
Familial chylomicronemia syndrome | LPL | ||
Familial dysautonomia | ELP1 | ||
Familial hypercholesterolemia (LDLR-related)^ | LDLR | ||
Familial hypercholesterolemia (LDLRAP1-related) | LDLRAP1 | ||
Fanconi anemia type A | FANCA | ||
Fanconi anemia type C | FANCC | ||
Fanconi anemia type G | FANCG | ||
FH-related conditions | FH | ||
Galactokinase deficiency galactosemia | GALK1 | ||
Galactosemia (GALT-related) | GALT | ||
GBA-related conditions including Gaucher disease | GBA | ||
GBE1-related conditions | GBE1 | ||
Gitelman syndrome | SLC12A3 | ||
GJB2-related conditions | GJB2 | ||
GLB1-related conditions | GLB1 | ||
GLE1-related conditions | GLE1 | ||
Glutaric acidemia type I | GCDH | ||
Glutaric acidemia type IIA | ETFA | ||
Glutaric acidemia type IIC | ETFDH | ||
Glycine encephalopathy (AMT-related) | AMT | ||
Glycine encephalopathy (GLDC-related) | GLDC | ||
Glycogen storage disease type Ia | G6PC | ||
Glycogen storage disease type II (Pompe disease) | GAA | ||
Glycogen storage disease type III | AGL | ||
Glycogen storage disease type V | PYGM | ||
Glycogen storage disease type VII | PFKM | ||
GNE-related conditions | GNE | ||
GNPTAB-related conditions | GNPTAB | ||
Guanidinoacetate methyltransferase deficiency | GAMT | ||
Gyrate atrophy of the choroid and retina | OAT | ||
HADHA-related conditions | HADHA | ||
HBB-related hemoglobinopathies | HBB | ||
Hereditary fructose intolerance | ALDOB | ||
Hereditary hemochromatosis type 2 (HJV-related) | HJV | ||
Hereditary hemochromatosis type 3 | TFR2 | ||
Hermansky-Pudlak syndrome type 1 | HPS1 | ||
Hermansky-Pudlak syndrome type 3 | HPS3 | ||
HGSNAT-related conditions | HGSNAT | ||
Holocarboxylase synthetase deficiency | HLCS | ||
Homocystinuria due to cobalamin E deficiency | MTRR | ||
Homocystinuria due to cystathionine beta-synthase deficiency | CBS | ||
Homocystinuria due to MTHFR deficiency | MTHFR | ||
HSD17B4-related conditions | HSD17B4 | ||
Hydrolethalus syndrome type 1 | HYLS1 | ||
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | SLC25A15 | ||
Hypophosphatasia | ALPL | ||
Isovaleric acidemia | IVD | ||
Joubert syndrome and related disorders (MKS1-related) | MKS1 | ||
Joubert syndrome and related disorders (RPGRIP1L- related) | RPGRIP1L | ||
Joubert syndrome and related disorders (TMEM216-related) | TMEM216 | ||
Junctional epidermolysis bullosa (LAMC2-related) | LAMC2 | ||
KCNJ11-related conditions | KCNJ11 | ||
Krabbe disease | GALC | ||
LAMA2-related muscular dystrophy | LAMA2 | ||
LAMA3-related conditions | LAMA3 | ||
LAMB3-related conditions | LAMB3 | ||
Leber congenital amaurosis 5 | LCA5 | ||
Leukoencephalopathy with vanishing white matter (EIF2B5-related) | EIF2B5 | ||
Limb-girdle muscular dystrophy (CAPN3-related) | CAPN3 | ||
Limb-girdle muscular dystrophy type 2C | SGCG | ||
Limb-girdle muscular dystrophy type 2D | SGCA | ||
Limb-girdle muscular dystrophy type 2E | SGCB | ||
Lipoid congenital adrenal hyperplasia | STAR | ||
Lysinuric protein intolerance | SLC7A7 | ||
Lysosomal acid lipase deficiency | LIPA | ||
Major histocompatibility complex class II deficiency (CIITA- related) | CIITA | ||
Maple syrup urine disease type 1A | BCKDHA | ||
Maple syrup urine disease type 1B | BCKDHB | ||
Maple syrup urine disease type 2 | DBT | ||
Medium-chain acyl-CoA dehydrogenase deficiency | ACADM | ||
Megalencephalic leukoencephalopathy with subcortical cysts 1 | MLC1 | ||
Metachromatic leukodystrophy (ARSA-related) | ARSA | ||
Methylmalonic acidemia (MMAA-related) | MMAA | ||
Methylmalonic acidemia (MMAB-related) | MMAB | ||
Methylmalonic acidemia (MUT-related) | MUT | ||
MFSD8-related conditions | MFSD8 | ||
Microcephaly, postnatal progressive, with seizures and brain atrophy | MED17 | ||
Mitochondrial complex I deficiency 9 | NDUFS6 | ||
Mitochondrial complex I deficiency 16 | NDUFAF5 | ||
Mitochondrial complex I deficiency 20/ACAD9 deficiency | ACAD9 | ||
Mitochondrial complex IV deficiency / Leigh syndrome, French Canadian type | LRPPRC | ||
Mitochondrial neurogastrointestinal encephalomyopathy | TYMP | ||
MPL-related conditions | MPL | ||
MPV17-related conditions | MPV17 | ||
Mucolipidosis type III gamma | GNPTG | ||
Mucolipidosis type IV | MCOLN1 | ||
Mucopolysaccharidosis type I | IDUA | ||
Mucopolysaccharidosis type II* | IDS | ||
Mucopolysaccharidosis type IIIA | SGSH | ||
Mucopolysaccharidosis type IIIB | NAGLU | ||
Mucopolysaccharidosis type IIID | GNS | ||
Mucopolysaccharidosis type IX | HYAL1 | ||
Mucopolysaccharidosis type VI | ARSB | ||
Multiple sulfatase deficiency | SUMF1 | ||
Muscular dystrophy-dystroglycanopathy (FKRP-related) | FKRP | ||
Muscular dystrophy-dystroglycanopathy (FKTN-related) | FKTN | ||
MYO7A-related conditions | MYO7A | ||
Myopathy, lactic acidosis, and sideroblastic anemia 1 | PUS1 | ||
N-acetylglutamate synthase deficiency | NAGS | ||
Nemaline myopathy 2 | NEB | ||
Nephrogenic diabetes insipidus (AQP2-related) | AQP2 | ||
Neuronal ceroid lipofuscinosis type 1 | PPT1 | ||
Neuronal ceroid lipofuscinosis type 2 | TPP1 | ||
Neuronal ceroid lipofuscinosis type 5 | CLN5 | ||
Neuronal ceroid lipofuscinosis type 6 | CLN6 | ||
Neuronal ceroid lipofuscinosis type 8 | CLN8 | ||
Niemann-Pick disease type C (NPC1-related) | NPC1 | ||
Niemann-Pick disease type C (NPC2-related) | NPC2 | ||
Niemann-Pick disease types A and B | SMPD1 | ||
Nijmegen breakage syndrome | NBN | ||
Nonsyndromic deafness (LOXHD1-related) | LOXHD1 | ||
NR2E3-related conditions | NR2E3 | ||
OPA3-related conditions | OPA3 | ||
Ornithine transcarbamylase deficiency* | OTC | ||
Osteopetrosis (TCIRG1-related) | TCIRG1 | ||
PCDH15-related conditions | PCDH15 | ||
PEX7-related conditions | PEX7 | ||
Phenylalanine hydroxylase deficiency | PAH | ||
Phosphoglycerate dehydrogenase deficiency | PHGDH | ||
Polycystic kidney disease (PKHD1-related) | PKHD1 | ||
Polymicrogyria (ADGRG1-related) | ADGRG1 | ||
POMGNT1-related conditions | POMGNT1 | ||
Pontocerebellar hypoplasia type 2D | SEPSECS | ||
Pontocerebellar hypoplasia type 6 | RARS2 | ||
Primary carnitine deficiency | SLC22A5 | ||
Primary ciliary dyskinesia (DNAH5-related) | DNAH5 | ||
Primary ciliary dyskinesia (DNAI1-related) | DNAI1 | ||
Primary ciliary dyskinesia (DNAI2-related) | DNAI2 | ||
Primary hyperoxaluria type 1 | AGXT | ||
Primary hyperoxaluria type 2 | GRHPR | ||
Primary hyperoxaluria type 3 | HOGA1 | ||
Propionic acidemia (PCCA-related) | PCCA | ||
Propionic acidemia (PCCB-related) | PCCB | ||
PRPS1-related conditions* | PRPS1 | ||
PSAP-related conditions | PSAP | ||
Pycnodysostosis | CTSK | ||
Pyruvate carboxylase deficiency | PC | ||
Pyruvate dehydrogenase complex deficiency (PDHA1-related)* | PDHA1 | ||
Pyruvate dehydrogenase complex deficiency (PDHB- related) | PDHB | ||
RAPSN-related conditions | RAPSN | ||
RDH12-related conditions | RDH12 | ||
Retinitis pigmentosa 25 | EYS | ||
Retinitis pigmentosa 28 | FAM161A | ||
Rhizomelic chondrodysplasia punctata type 3 | AGPS | ||
Roberts syndrome | ESCO2 | ||
RPE65-related conditions | RPE65 | ||
Sandhoff disease | HEXB | ||
Schimke immuno-osseous dysplasia | SMARCAL1 | ||
Severe combined immunodeficiency due to DCLRE1C (Artemis) deficiency | DCLRE1C | ||
Severe combined immunodeficiency due to RAG2 deficiency | RAG2 | ||
Severe congenital neutropenia due to HAX1 deficiency | HAX1 | ||
Severe congenital neutropenia due to VPS45 deficiency | VPS45 | ||
Sialic acid storage diseases | SLC17A5 | ||
Sjögren-Larsson syndrome | ALDH3A2 | ||
SLC12A6-related conditions | SLC12A6 | ||
SLC26A2-related conditions | SLC26A2 | ||
SLC26A4-related conditions | SLC26A4 | ||
SLC37A4-related conditions | SLC37A4 | ||
Smith-Lemli-Opitz syndrome | DHCR7 | ||
Spastic paraplegia type 15 | ZFYVE26 | ||
Spastic paraplegia type 49 | TECPR2 | ||
Spondylocostal dysostosis (MESP2-related) | MESP2 | ||
Steel syndrome | COL27A1 | ||
Stüve-Wiedemann syndrome | LIFR | ||
Tay-Sachs disease | HEXA | ||
Transient infantile liver failure | TRMU | ||
Tyrosine hydroxylase deficiency | TH | ||
Tyrosinemia type I | FAH | ||
Tyrosinemia type II | TAT | ||
USH1C-related conditions | USH1C | ||
USH2A-related conditions | USH2A | ||
Very long-chain acyl-CoA dehydrogenase deficiency | ACADVL | ||
VRK1-related conditions | VRK1 | ||
VSX2-related conditions | VSX2 | ||
Wilson disease | ATP7B | ||
WNT10A-related conditions | WNT10A | ||
X-linked adrenoleukodystrophy* | ABCD1 | ||
X-linked creatine transporter deficiency* | SLC6A8 | ||
X-linked juvenile retinoschisis* | RS1 | ||
X-linked myotubular myopathy* | MTM1 | ||
X-linked severe combined immunodeficiency* | IL2RG | ||
Xeroderma pigmentosum complementation group A | XPA | ||
Xeroderma pigmentosum complementation group C | XPC | ||
Zellweger spectrum disorder (PEX1-related) | PEX1 | ||
Zellweger spectrum disorder (PEX2-related) | PEX2 | ||
Zellweger spectrum disorder (PEX6-related) | PEX6 | ||
Zellweger spectrum disorder (PEX10-related) | PEX10 | ||
Zellweger spectrum disorder (PEX12-related) | PEX12 | ||
2-methyl-3-hydroxybutyric aciduria* | HSD17B10 | ||
17-beta hydroxysteroid dehydrogenase 3 deficiency | HSD17B3 | ||
ABCA3-related conditions | ABCA3 | ||
ABCA4-related conditions | ABCA4 | ||
ADGRV1-related conditions | ADGRV1 | ||
AHI1-related conditions | AHI1 | ||
Aicardi-Goutieres syndrome 2 | RNASEH2B | ||
Aicardi-Goutieres syndrome 3 | RNASEH2C | ||
Aicardi-Goutieres syndrome 4 | RNASEH2A | ||
AIPL1-related conditions | AIPL1 | ||
ALG13-related conditions* | ALG13 | ||
Alpha-N-acetylgalactosaminidase deficiency | NAGA | ||
Androgen insensitivity syndrome* | AR | ||
ARL6-related conditions | ARL6 | ||
ARX-related conditions* | ARX | ||
Ataxia-telangiectasia-like disorder | MRE11 | ||
ATP8B1-related conditions | ATP8B1 | ||
Atransferrinemia | TF | ||
Autosomal recessive congenital ichthyosis (ABCA12-related) | ABCA12 | ||
AVPR2-related conditions* | AVPR2 | ||
Bardet-Biedl syndrome (BBS7-related) | BBS7 | ||
Bardet-Biedl syndrome (BBS9-related) | BBS9 | ||
Barth syndrome* | TAZ | ||
Bartter syndrome type 1 | SLC12A1 | ||
Bartter syndrome type 2 | KCNJ1 | ||
BBS4-related conditions | BBS4 | ||
BBS5-related conditions | BBS5 | ||
Beta-mannosidosis | MANBA | ||
Biopterin-deficient hyperphenylalaninemia (PCBD1-related) | PCBD1 | ||
Biopterin-deficient hyperphenylalaninemia (QDPR-related) | QDPR | ||
Biotin-responsive basal ganglia disease | SLC19A3 | ||
BRIP1-related conditions | BRIP1 | ||
Brittle cornea syndrome (PRDM5-related) | PRDM5 | ||
Brittle cornea syndrome (ZNF469-related) | ZNF469 | ||
Cardioencephalomyopathy | SCO2 | ||
Carnitine-acylcarnitine translocase deficiency | SLC25A20 | ||
Catecholaminergic polymorphic ventricular tachycardia (CASQ2-related) | CASQ2 | ||
CC2D2A-related conditions | CC2D2A | ||
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | VLDLR | ||
Cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma | SNAP29 | ||
Charcot-Marie-Tooth disease type 4D | NDRG1 | ||
Chediak-Higashi syndrome | LYST | ||
Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities | MECR | ||
Chronic granulomatous disease (NCF2-related) | NCF2 | ||
Cobalamin F deficiency | LMBRD1 | ||
COL11A2-related conditions | COL11A2 | ||
COL17A1-related conditions | COL17A1 | ||
Combined pituitary hormone deficiency (POU1F1-related) | POU1F1 | ||
Congenital adrenal insufficiency | CYP11A1 | ||
Congenital chronic diarrhea (DGAT1-related) | DGAT1 | ||
Congenital disorder of glycosylation type Ik | ALG1 | ||
Congenital disorder of glycosylation type Iv | NGLY1 | ||
Congenital dyserythropoietic anemia type II | SEC23B | ||
Congenital hydrocephalus-1 | CCDC88C | ||
Congenital hypothyroidism (TSHB-related) | TSHB | ||
Congenital myasthenic syndrome (CHAT-related) | CHAT | ||
Congenital secretory chloride diarrhea | SLC26A3 | ||
CTSC-related conditions | CTSC | ||
CYP1B1-related conditions | CYP1B1 | ||
CYP7B1-related conditions | CYP7B1 | ||
Cytochrome P450 oxidoreductase deficiency | POR | ||
Desbuquois dysplasia type 1 | CANT1 | ||
Developmental and epileptic encephalopathy (CAD-related) | CAD | ||
DGUOK-related conditions | DGUOK | ||
DOK7-related conditions | DOK7 | ||
Donnai-Barrow syndrome | LRP2 | ||
Dubin-Johnson syndrome | ABCC2 | ||
DUOX2-related conditions | DUOX2 | ||
DYNC2H1-related conditions | DYNC2H1 | ||
Dyskeratosis congenita spectrum disorders (DKC1-related)* | DKC1 | ||
Dyskeratosis congenita spectrum disorders (TERT-related) | TERT | ||
Ehlers-Danlos syndrome, kyphoscoliotic type | PLOD1 | ||
Epidermolysis bullosa with pyloric atresia (ITGB4-related) | ITGB4 | ||
Epimerase deficiency galactosemia | GALE | ||
ERCC2-related conditions | ERCC2 | ||
Factor V Leiden thrombophilia^ | F5 | ||
Familial hemophagocytic lymphohistiocytosis type 2 | PRF1 | ||
Familial hemophagocytic lymphohistiocytosis type 3 | UNC13D | ||
Familial hemophagocytic lymphohistiocytosis type 4 | STX11 | ||
Familial hemophagocytic lymphohistiocytosis type 5 | STXBP2 | ||
Fanconi anemia type B* | FANCB | ||
Fanconi anemia type D2 | FANCD2 | ||
Fanconi anemia type E | FANCE | ||
Fanconi anemia type I | FANCI | ||
Fanconi anemia type L | FANCL | ||
FHL1-related conditions* | FHL1 | ||
FKBP10-related conditions | FKBP10 | ||
Foveal hypoplasia (SLC38A8-related) | SLC38A8 | ||
FOXN1-related conditions | FOXN1 | ||
Fraser syndrome (FRAS1-related) | FRAS1 | ||
Fraser syndrome (FREM2-related) | FREM2 | ||
Fraser syndrome (GRIP1-related) | GRIP1 | ||
Fructose-1,6-bisphosphatase deficiency | FBP1 | ||
Fucosidosis | FUCA1 | ||
Galactosialidosis | CTSA | ||
GATM-related conditions | GATM | ||
GCH1-related conditions | GCH1 | ||
GDF5-related conditions | GDF5 | ||
Geroderma osteodysplastica | GORAB | ||
GHR-related conditions | GHR | ||
Glutaric acidemia type IIB | ETFB | ||
Glutathione synthetase deficiency | GSS | ||
Glycogen storage disease type IXb | PHKB | ||
Glycogen storage disease type IXc | PHKG2 | ||
GM3 synthase deficiency | ST3GAL5 | ||
GUCY2D-related conditions | GUCY2D | ||
HCFC1-related conditions* | HCFC1 | ||
Heme oxygenase 1 deficiency | HMOX1 | ||
Hemolytic anemia, CD59-mediated | CD59 | ||
Hereditary hemochromatosis type 2 (HAMP-related) | HAMP | ||
Hermansky-Pudlak syndrome type 4 | HPS4 | ||
Hermansky-Pudlak syndrome type 5 | HPS5 | ||
Hermansky-Pudlak syndrome type 6 | HPS6 | ||
Hermansky-Pudlak syndrome type 8 | BLOC1S3 | ||
Hermansky-Pudlak syndrome type 9 | BLOC1S6 | ||
Homocystinuria due to cobalamin G deficiency | MTR | ||
HPRT1-related conditions* | HPRT1 | ||
Hyper-IgM immunodeficiency (CD40-related) | CD40 | ||
Hyperphosphatemic familial tumoral calcinosis (GALNT3-related) | GALNT3 | ||
Hypomyelinating leukodystrophy-12 | VPS11 | ||
Ichthyosis prematurity syndrome | SLC27A4 | ||
IGHMBP2-related conditions | IGHMBP2 | ||
IKBKB-related conditions | IKBKB | ||
Imerslund-Gr sbeck syndrome | AMN | ||
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | DNMT3B | ||
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | ZBTB24 | ||
Isolated ectopia lentis | ADAMTSL4 | ||
ITGB3-related conditions | ITGB3 | ||
Johanson-Blizzard syndrome | UBR1 | ||
Junctional epidermolysis bullosa with pyloric atresia (ITGA6-related) | ITGA6 | ||
L1 syndrome* | L1CAM | ||
Leukoencephalopathy with vanishing white matter (EIF2B1-related) | EIF2B1 | ||
Leukoencephalopathy with vanishing white matter (EIF2B2-related) | EIF2B2 | ||
Leukoencephalopathy with vanishing white matter (EIF2B3-related) | EIF2B3 | ||
Leukoencephalopathy with vanishing white matter (EIF2B4-related) | EIF2B4 | ||
LIG4 syndrome | LIG4 | ||
Limb-girdle muscular dystrophy type 2F | SGCD | ||
LRAT-related conditions | LRAT | ||
Malonyl-CoA decarboxylase deficiency | MLYCD | ||
MECP2-related conditions* | MECP2 | ||
Medium/short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | HADH | ||
MEDNIK syndrome | AP1S1 | ||
Metabolic crises with rhabdomyolysis, cardiac arrhythmias and neurodegeneration | TANGO2 | ||
Methylmalonic acidemia (MCEE-related) | MCEE | ||
Microcephalic osteodysplastic primordial dwarfism type II | PCNT | ||
Mitochondrial complex I deficiency 1 | NDUFS4 | ||
Mitochondrial complex I deficiency 3 | NDUFS7 | ||
Mitochondrial complex I deficiency 4 | NDUFV1 | ||
Mitochondrial complex I deficiency 10 | NDUFAF2 | ||
Mitochondrial complex I deficiency 19 | FOXRED1 | ||
Mitochondrial complex IV deficiency 6 | COX15 | ||
Mitochondrial complex IV deficiency 12 | PET100 | ||
Mitochondrial DNA depletion syndrome-2 | TK2 | ||
Mitochondrial trifunctional protein deficiency (HADHB- related) | HADHB | ||
MKKS-related conditions | MKKS | ||
Molybdenum cofactor deficiency (MOCS1-related) | MOCS1 | ||
Molybdenum cofactor deficiency (MOCS2-related) | MOCS2B | ||
Molybdenum cofactor deficiency (MOCS2-related) | MOCS2A | ||
Mucopolysaccharidosis type IVA | GALNS | ||
Mucopolysaccharidosis type VII | GUSB | ||
Mulibrey nanism | TRIM37 | ||
Multiple pterygium syndrome | CHRNG | ||
Muscular dystrophy-dystroglycanopathy (LARGE1-related) | LARGE1 | ||
Muscular dystrophy-dystroglycanopathy (POMT1-related) | POMT1 | ||
Muscular dystrophy-dystroglycanopathy (POMT2-related) | POMT2 | ||
Muscular dystrophy-dystroglycanopathy (RXYLT1-related) | RXYLT1 | ||
MUSK-related conditions | MUSK | ||
MVK-related conditions | MVK | ||
Myotonia congenita | CLCN1 | ||
Nephronophthisis (INVS-related) | INVS | ||
Nephronophthisis (NPHP1-related) | NPHP1 | ||
Neuronal ceroid lipofuscinosis type 10 | CTSD | ||
Nonsyndromic deafness (MYO15A-related) | MYO15A | ||
Nonsyndromic deafness (OTOA-related) | OTOA | ||
Nonsyndromic deafness (SYNE4-related) | SYNE4 | ||
Nonsyndromic deafness (TMC1-related) | TMC1 | ||
Nonsyndromic deafness (TMPRSS3-related) | TMPRSS3 | ||
Nonsyndromic intellectual disability (CC2D1A-related) | CC2D1A | ||
NR0B1-related conditions* | NR0B1 | ||
NSMCE3 deficiency | NSMCE3 | ||
OCRL-related conditions* | OCRL | ||
Oculocutaneous albinism type 2 | OCA2 | ||
Oculocutaneous albinism type 3 | TYRP1 | ||
Oculocutaneous albinism type 4 | SLC45A2 | ||
Oculocutaneous albinism types 1A and 1B | TYR | ||
Opitz GBBB syndrome (MID1-related)* | MID1 | ||
Osteogenesis imperfecta (BMP1-related) | BMP1 | ||
Osteogenesis imperfecta (CRTAP-related) | CRTAP | ||
Osteogenesis imperfecta (P3H1-related) | P3H1 | ||
OSTM1 deficiency associated osteopetrosis | OSTM1 | ||
OTOF-related conditions | OTOF | ||
Pantothenate kinase-associated neurodegeneration | PANK2 | ||
Parkinson disease 15 | FBXO7 | ||
PEX5-related conditions | PEX5 | ||
PGM3-congenital disorder of glycosylation | PGM3 | ||
PIGN-congenital disorder of glycosylation | PIGN | ||
PJVK-related conditions | DFNB59 | ||
PLA2G6-related conditions | PLA2G6 | ||
PLEKHG5-related conditions | PLEKHG5 | ||
PLP1-related conditions* | PLP1 | ||
POLG-related conditions | POLG | ||
Pontocerebellar hypoplasia (TSEN54-related) | TSEN54 | ||
Pontocerebellar hypoplasia type 1B | EXOSC3 | ||
Primary ciliary dyskinesia (CCDC39-related) | CCDC39 | ||
Primary ciliary dyskinesia (CCDC103-related) | CCDC103 | ||
Primary ciliary dyskinesia (DNAH11-related) | DNAH11 | ||
Primary microcephaly (MCPH1-related) | MCPH1 | ||
Progressive early-onset encepahlopathy with brain atrophy and thin corpus callosum (PEBAT) | TBCD | ||
Progressive familial intrahepatic cholestasis 3 | ABCB4 | ||
Progressive pseudorheumatoid dysplasia | WISP3 | ||
Prolidase deficiency | PEPD | ||
Prothrombin-related thrombophilia^ | F2 | ||
Pyridoxal 5'-phosphate-dependent epilepsy | PNPO | ||
Pyridoxine-dependent epilepsy (ALDH7A1-related) | ALDH7A1 | ||
Refsum disease (PHYH-related) | PHYH | ||
Retinitis pigmentosa 2* | RP2 | ||
Retinitis pigmentosa 36 | PRCD | ||
Retinitis pigmentosa 62 | MAK | ||
Rhizomelic chondrodysplasia punctata type 2 | GNPAT | ||
RLBP1-related conditions | RLBP1 | ||
RYR1-related conditions | RYR1 | ||
SAMD9-related conditions | SAMD9 | ||
Seckel syndrome (CEP152-related) | CEP152 | ||
Sepiapterin reductase deficiency | SPR | ||
Severe combined immunodeficiency due to CD3-delta deficiency | CD3D | ||
Severe combined immunodeficiency due to CD3-epsilon deficiency | CD3E | ||
Severe combined immunodeficiency due to CD45 deficiency | PTPRC | ||
Severe combined immunodeficiency due to IL7R-alpha deficiency | IL7R | ||
Severe combined immunodeficiency due to JAK3 deficiency | JAK3 | ||
Severe combined immunodeficiency due to RAG1 deficiency | RAG1 | ||
Severe congenital neutropenia due to G6PC3 deficiency | G6PC3 | ||
Sialidosis | NEU1 | ||
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | SLC1A4 | ||
SPG11-related conditions | SPG11 | ||
Spinocerebellar ataxia (ANO10-related) | ANO10 | ||
Spondylocostal dysostosis (DLL3-related) | DLL3 | ||
Steroid 5-alpha-reductase deficiency | SRD5A2 | ||
Sulfite oxidase deficiency | SUOX | ||
SURF1-related conditions | SURF1 | ||
TBCE-related conditions | TBCE | ||
Thiamine-responsive megaloblastic anemia | SLC19A2 | ||
Thyroid dyshormonogenesis (SLC5A5-related) | SLC5A5 | ||
Thyroid dyshormonogenesis (TG-related) | TG | ||
Thyroid dyshormonogenesis (TPO-related) | TPO | ||
TMEM67-related conditions | TMEM67 | ||
Transcobalamin II deficiency | TCN2 | ||
TREX1-related conditions | TREX1 | ||
Trichohepatoenteric syndrome (SKIV2L-related) | SKIV2L | ||
Trichohepatoenteric syndrome (TTC37-related) | TTC37 | ||
TRIM32-related conditions | TRIM32 | ||
Trimethylaminuria | FMO3 | ||
Triple A syndrome | AAAS | ||
TSHR-related conditions | TSHR | ||
TULP1-related conditions | TULP1 | ||
Tyrosinemia type III | HPD | ||
Vici syndrome | EPG5 | ||
Vitamin D-dependent rickets type 1A | CYP27B1 | ||
Vitamin D-dependent rickets type 2A | VDR | ||
VPS53-related conditions | VPS53 | ||
Warsaw syndrome | DDX11 | ||
WAS-related conditions* | WAS | ||
Werner syndrome | WRN | ||
Wolcott-Rallison syndrome | EIF2AK3 | ||
Woodhouse-Sakati syndrome | DCAF17 | ||
X-linked agammaglobulinemia* | BTK | ||
X-linked chondrodysplasia punctata type 1* | ARSE | ||
X-linked hyper-IgM immunodeficiency* | CD40LG | ||
Xeroderma pigmentosum, variant type | POLH | ||
Zellweger spectrum disorder (PEX13-related) | PEX13 | ||
Zellweger spectrum disorder (PEX16-related) | PEX16 | ||
Zellweger spectrum disorder (PEX26-related) | PEX26 |