Metabolske sykdommer
Genpanel, versjon v02
* Enkelte genomiske regioner har lav eller ingen sekvensdekning ved eksomsekvensering. Dette skyldes at de har stor likhet med andre områder i genomet, slik at spesifikk gjenkjennelse av disse områdene og påvisning av varianter i disse områdene, blir vanskelig og upålitelig. Disse genetiske regionene har vi identifisert ved å benytte USCS segmental duplication hvor områder større enn 1 kb og ≥90% likhet med andre regioner i genomet, gjenkjennes (https://genome.ucsc.edu).
For noen gener ligger alle ekson i områder med segmentale duplikasjoner: AQP7, ASNS,
ATAD3A, CA5A, CYCS, CYP11B1, CYP11B2, CYP21A2, GBA, GGT1, MSTO1, PIGC, SDHA, SLC6A8, SORD
Vi gjør oppmerksom på at ved identifiseringav ekson oppstrøms for startkodon kan eksonnummereringen endres uten at transkript ID endres.
Avdelingens websider har en full oversikt over områder som er affisert av segmentale duplikasjoner.
** Transkriptets kodende ekson.
Gen (HGNC symbol)
Gen (HGNC
ID) Transkript
Ekson affisert av
segdup*
Ekson** Fenotype
A4GALT 18149 NM_017436.6 3 GB3 synthase deficiency OMIM
NOR polyagglutination syndrome OMIM AARS 20 NM_001605.2 2-21 Charcot-Marie-Tooth disease, axonal,
type 2N OMIM
Epileptic encephalopathy, early infantile, 29 OMIM
AARS2 21022 NM_020745.3 1-22 Mitochondrial alanyl-tRNA synthetase deficiency OMIM
Combined oxidative phosphorylation deficiency type 8; progressive
leukoencephalopathy with ovarian failure OMIM
AASS 17366 NM_005763.3 2-24 ?-aminoadipic semialdehyde synthase deficiency OMIM
Familial hyperlysinemia; saccharopinuria OMIM
ABAT 23 NM_020686.5 2-16 GABA transaminase deficiency OMIM
ABCA1 29 NM_005502.3 2-50 Tangier disease OMIM
Analaphalipoproteinemia OMIM
ABCB11 42 NM_003742.4 2-28 Bile salt export pump deficiency OMIM Progressive familial intrahepatic
cholestasis type 2 (severe); benign
recurrent intrahepatic cholestasis type 2 (milder) OMIM
ABCB4 45 NM_000443.3 2-28 Phosphatidylcholine translocator deficiency OMIM
Progressive familial intrahepatic cholestasis type 3 (severe); low
phospholipid-associated cholelithiasis (milder) OMIM
ABCB6 47 NM_005689.3 1-19 Mitochondrial porphyrin transporter deficiency OMIM
Familial pseudohyperkalemia type 2;
dyschromatosis universalis hereditaria type 3 OMIM
ABCB7 48 NM_004299.6 1-16 ABCB7 deficiency OMIM Sideroblastic anemia and spinocerebellar ataxia OMIM ABCC2 53 NM_000392.5 1-32 Canalicular bilirubin glucuronide
transporter deficiency OMIM Dubin-Johnson syndrome OMIM ABCC6 57 NM_001171.5 1-9 1-31 ABCC6 deficiency OMIM
Generalized arterial calcification of infancy type 2 (severe);
pseudoxanthoma elasticum (milder) OMIM
ABCC8 59 NM_000352.4 1-39 ATP-sensitive potassium channel regulatory subunit deficiency OMIM Familial hyperinsulinemic hypoglycemia type 1 OMIM
ATP-sensitive potassium channel
regulatory subunit superactivity OMIM Developmental delay, epilepsy and neonatal diabetes (DEND), permanent or transient neonatal diabetes without neurologic features (severe); maturity- onset diabetes of the young type 12 (milder) OMIM
ABCD1 61 NM_000033.3 7-10 1-10 X-linked adrenoleukodystrophy OMIM
ABCD3 67 NM_002858.3 1-23 PMP70 deficiency OMIM
ABCD4 68 NM_005050.3 1-19 Methylmalonic aciduria and homocystinuria,+cblJ+type OMIM
ABCG5 13886 NM_022436.2 1-13 Sitosterolemia due to ABCG5 deficiency OMIM
ABCG8 13887 NM_022437.2 1-13 Sitosterolemia due to ABCG8 deficiency OMIM
ABHD12 15868 NM_001042472.2 1-13 ABHD12 deficiency OMIM
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) syndrome, OMIM
ABHD5 21396 NM_016006.5 1-7 CGI-58 deficiency OMIM
Chanarin-Dorfman syndrome; neutral lipid storage disease with ichthyosis OMIM
ACACA 84 NM_198839.2 7-60 Cytosolic acetyl-CoA carboxylase 1 deficiency OMIM
ACACB 85 NM_001093.3 1-52 Mitochondrial acetyl-CoA carboxylase 2 deficiency OMIM
ACAD8 87 NM_014384.2 1-11 Isobutyryl-
CoA+dehydrogenase+deficiency OMIM
ACAD9 21497 NM_014049.4 1-18 ACAD9 deficiency OMIM
ACADL 88 NM_001608.3 1-11 Long-chain acyl-CoA dehydrogenase deficiency OMIM
ACADM 89 NM_000016.5 1-12 Medium-chain acyl-CoA dehydrogenase deficiency OMIM
ACADS 90 NM_000017.3 1-10 Short-chain acyl-CoA dehydrogenase deficiency OMIM
ACADSB 91 NM_001609.3 1-11 2-Methylbutyryl-
CoA+dehydrogenase+deficiency OMIM Short/branched-chain acyl-
CoA+dehydrogenase deficiency; 2- methylbutyrylglycinuria OMIM
ACADVL 92 NM_000018.3 1-20 Very long-chain acyl-CoA dehydrogenase deficiency OMIM
ACAT1 93 NM_000019.3 1-12 Mitochondrial acetoacetyl-CoA thiolase deficiency OMIM
?-ketothiolase deficiency; ?-
methylacetoacetic aciduria OMIM ACAT2 11178 NM_005891.2 1-9 Cytosolic acetoacetyl-CoA thiolase
deficiency OMIM
ACBD5 23338 NM_145698.4 1-13 Acyl-CoA-binding domain-containing protein 5 deficiency OMIM
ACER3 16066 NM_018367.6 1-11 Alkaline ceramidase 3 deficiency OMIM
ACMSD 19288 NM_138326.2 1-10 Aminocarboxymuconate semialdehyde decarboxylase superactivity OMIM ACO2 118 NM_001098.2 1-18 Mitochondrial aconitase deficiency
OMIM
Infantile cerebellar-retinal degeneration OMIM
ACOX1 119 NM_004035.6 1-14 Peroxisomal straight-chain acyl-CoA oxidase deficiency OMIM
Pseudo-neonatal adrenoleukodystrophy OMIM
ACOX2 120 NM_003500.3 2-15 Peroxisomal branched-chain acyl-CoA oxidase deficiency OMIM
Congenital bile acid synthesis defect type 6 OMIM
ACSF3 27288 NM_174917.4 3-11 Acyl-CoA+synthetase family member 3 deficiency OMIM
Combined malonic and methylmalonic aciduria OMIM
ACSL4 3571 NM_004458.2 3-16 Long-chain fatty acid-CoA ligase 4 deficiency OMIM
X-linked mental retardation 63 OMIM ACY1 177 NM_000666.2 2-15 Aminoacylase 1 deficiency OMIM
ADA 186 NM_000022.3 1-12 Adenosine deaminase 1 deficiency OMIM
ADAR 225 NM_001111.5 1-15 RNA-specific adenosine deaminase deficiency OMIM
Aicardi-GoutiEres syndrome type 6 (recessive); dyschromatosis symmetrica hereditaria (dominant) OMIM
ADCK3 16812 NM_020247.4 2-15 COQ8A deficiency OMIM
Primary coenzyme Q10 deficiency type 4;
ADCK3 deficiency OMIM ADCK4 19041 NM_024876.3 2-15 COQ8B deficiency OMIM
Nephrotic syndrome type 9; ADCK4 deficiency OMIM
ADK 257 NM_001123.3 1-11 =+adenosine kinase deficiency OMIM
ADSL 291 NM_000026.3 1-13 Adenylosuccinate lyase deficiency OMIM
AFG3L2 315 NM_006796.2 14 1-17 m-AAA protease AFG3L2 subunit deficiency OMIM
Autosomal recessive spastic ataxia type 5; spinocerebellar ataxia type 28 OMIM AGA 318 NM_000027.3 1-9 Aspartylglucosaminidase deficiency
OMIM
Aspartylglucosaminuria OMIM
AGK 21869 NM_018238.3 16 2-16 Acylglycerol kinase deficiency OMIM Sengers syndrome OMIM
AGL 321 NM_000642.2 2-34 Glycogen debranching enzyme
deficiency OMIM
Glycogen storage disease type 3; Cori- Forbes disease; limit dextrinosis OMIM AGPAT2 325 NM_006412.3 1-6 Lysophosphatidic acid
acyltransferase+deficiency OMIM Congenital generalized lipodystrophy type 1, Berardinelli-Seip syndrome OMIM AGPS 327 NM_003659.3 1-20 Alkylglycerone 3-phosphate synthase
deficiency OMIM
Rhizomelic chondrodysplasia punctata type 3 OMIM
AGXT 341 NM_000030.2 1-11 Alanine-glyoxylate aminotransferase deficiency OMIM
Primary hyperoxaluria type 1 OMIM AGXT2 14412 NM_031900.3 1-14 Hyper-?-aminoisobutyric aciduria OMIM
AHCY 343 NM_000687.3 1-10 S-adenosylhomocysteine hydrolase deficiency OMIM
AICDA 13203 NM_020661.3 1-5 Activation-induced cytidine deaminase deficiency OMIM
Hyper-IgM syndrome type 2 OMIM AIFM1 8768 NM_004208.3 1-16 AIFM1 deficiency OMIM
Combined oxidative phosphorylation deficiency type 6; Cowchock syndrome OMIM
AK1 361 NM_000476.2 2-7 Adenylate kinase 1 deficiency OMIM
AK2 362 NM_001625.3 1-6 Adenylate kinase 2 deficiency OMIM Reticular dysgenesis OMIM
AK7 20091 NM_152327.4 1-18 Adenylate kinase 7 deficiency OMIM
AKR1D1 388 NM_005989.3 1-9 ?4-3-oxosteroid 5?-reductase deficiency OMIM
Congenital bile acid synthesis defect type 2 OMIM
AKT2 392 NM_001626.5 2-14 AKT2 superactivity OMIM
Hypoinsulinemic hypoglycemia with hemihypertrophy OMIM
AKT2 deficiency OMIM
ALAD 395 NM_000031.5 2-12 ?-aminolevulinic acid dehydratase deficiency OMIM
ALAS2 397 NM_000032.5 2-11 ?-aminolevulinic acid synthase deficiency OMIM
X-linked recessive sideroblastic anemia type 1 OMIM
?-aminolevulinic acid synthase superactivity OMIM
X-linked protoporphyria OMIM
ALDH18A1 9722 NM_002860.3 2-18 ?-1-pyrroline-5-carboxylate synthase deficiency, cutis laxa phenotype OMIM Autosomal recessive cutis laxa type 3A;
autosomal dominant cutis laxa type 3 OMIM
?-1-pyrroline-5-carboxylate synthase deficiency, spastic paraplegia phenotype OMIM
Autosomal dominant spastic paraplegia type 9A; autosomal recessive spastic paraplegia type 9B OMIM
ALDH1A3 409 NM_000693.3 1-13 Retinaldehyde dehydrogenase 3 deficiency OMIM
Isolated microphthalmia type 8 OMIM ALDH3A2 403 NM_000382.2 1-10 Fatty aldehyde dehydrogenase
deficiency OMIM
Sjogren-Larsson syndrome OMIM ALDH4A1 406 NM_003748.3 1-15 Pyrroline-5-carboxylate
dehydrogenase+deficiency OMIM Hyperprolinemia type 2 OMIM
ALDH5A1 408 NM_001080.3 1-10 Succinic semialdehyde dehydrogenase deficiency OMIM
4-hydroxybutyric aciduria OMIM ALDH6A1 7179 NM_005589.3 1-12 Methylmalonate semialdehyde
dehydrogenase+deficiency OMIM ALDH7A1 877 NM_001182.4 1-18 ?-aminoadipic semialdehyde
dehydrogenase deficiency OMIM Pyridoxine-dependent epilepsy OMIM ALDOA 414 NM_000034.3 7-14 Aldolase A deficiency OMIM
Glycogen storage disease+type 12 OMIM ALDOB 417 NM_000035.3 2-9 Aldolase B deficiency OMIM
Hereditary fructose intolerance OMIM ALG1 18294 NM_019109.4 6-13 1-13 ALG1 ?-1,4-mannosyltransferase
deficiency OMIM ALG1-CDG OMIM
ALG11 32456 NM_001004127.2 1-4 ALG11 ?-1,2-mannosyltransferase deficiency OMIM
ALG11-CDG OMIM
ALG12 19358 NM_024105.3 2-10 ALG12 ?-1, 6-mannosyltransferase deficiency OMIM
ALG12-CDG OMIM
ALG13 30881 NM_001099922.2 1-27 X-linked recessive UDP-N-
acetylglucosamine transferase catalytic subunit deficiency OMIM
ALG13-CDG OMIM
X-linked dominant UDP-N-
acetylglucosamine transferase catalytic subunit deficiency OMIM
Early infantile epileptic encephalopathy type 36 OMIM
ALG14 28287 NM_144988.3 1-4 UDP-N-acetylglucosamine transferase anchoring subunit deficiency OMIM ALG14-CDG OMIM
ALG2 23159 NM_033087.3 1-2 ALG2 ?-1,3/1,6-mannosyltransferase deficiency OMIM
ALG2-CDG OMIM
ALG3 23056 NM_005787.5 1-9 ALG3 ?-1,3-mannosyltransferase deficiency OMIM
ALG3-CDG OMIM
ALG6 23157 NM_013339.3 2-15 ALG6 ?-1,3-glucosyltransferase deficiency OMIM
ALG6-CDG OMIM
ALG8 23161 NM_024079.4 1-13 ALG8 ?-1,3-glucosyltransferase deficiency OMIM
ALG8-CDG (recessive); polycystic liver disease type 3 (dominant) OMIM ALG9 15672 NM_024740.2 1-16 ALG9 ?-1,2-mannosyltransferase
deficiency OMIM ALG9-CDG OMIM
ALPI 437 NM_001631.4 1-11 Intestinal alkaline phosphatase anchoring deficiency OMIM
ALPL 438 NM_000478.5 2-12 Tissue-nonspecific alkaline phosphatase deficiency OMIM
Hypophosphatasia OMIM
AMACR 451 NM_014324.5 1-5 ?-methylacyl-CoA racemase deficiency OMIM
Congenital bile acid synthesis defect type 4 OMIM
AMN 14604 NM_030943.3 1-12 Amnionless deficiency OMIM
Imerslund-Grosbeck disease, Norwegian type OMIM
AMPD1 468 NM_000036.2 1-16 Muscle adenosine monophosphate deaminase 1 deficiency OMIM Myoadenylate deaminase deficiency OMIM
AMPD2 469 NM_001257360.1 2-19 Adenosine monophosphate deaminase 2 deficiency OMIM
Pontocerebellar hypoplasia type 9 (severe); autosomal recessive spastic paraplegia type 63 (milder) OMIM
AMPD3 470 NM_001172431.1 3-14 Erythrocyte adenosine monophosphate deaminase 3 deficiency OMIM
AMT 473 NM_000481.3 1-9 Glycine encephalopathy due to aminomethyltransferase deficiency OMIM
Nonketotic hyperglycinemia OMIM ANGPTL3 491 NM_014495.3 1-7 Angiopoietin-like 3 deficiency OMIM
Familial hypobetalipoproteinemia type 2; combined familial hypolipidemia OMIM
ANO10 25519 NM_018075.4 2-13 Spinocerebellar ataxia, autosomal recessive 10 OMIM
ANTXR2 21732 NM_058172.5 1-17 Hyaline fibromatosis syndrome OMIM
AP1S1 559 NM_001283.4 1-5 MEDNIK+syndrome OMIM
AP5Z1 22197 NM_014855.2 1-17 Adaptor-related protein complex 5 ?-1 subunit deficiency OMIM
Autosomal recessive spastic paraplegia type 48 OMIM
APOA1 600 NM_000039.2 2-4 Apolipoprotein A1 deficiency OMIM Hypoalphalipoproteinemia OMIM Hereditary apolipoprotein A1-related amyloidosis OMIM
APOA1BP 18453 NM_144772.2 1-6 NAD(P)HX epimerase deficiency OMIM Apolipoprotein A-I binding protein deficiency OMIM
APOA5 17288 NM_052968.4 2-4 Apolipoprotein A5 deficiency OMIM Late-onset hyperchylomicronemia;
hyperlipoproteinemia type 5 OMIM APOB 603 NM_000384.2 1-29 Hypercholesterolemia due to ligand-
defective apo B OMIM
Apolipoprotein B deficiency OMIM Familial hypobetalipoproteinemia type 1; normotriglyceridemic
hypobetalipoproteinemia OMIM APOC2 609 NM_000483.4 2-4 Apolipoprotein C2 deficiency OMIM
Hyperlipoproteinemia type 1B OMIM
APOC3 610 NM_000040.2 2-4 Apolipoprotein C3 deficiency OMIM Hyperalphalipoproteinemia type 2 OMIM APOE 613 NM_000041.3 2-4 Apolipoprotein E deficiency OMIM
Dysbetalipoproteinemia;
hyperlipoproteinemia type 3 OMIM Apolipoprotein E superactivity OMIM Inherited lipemic splenomegaly; sea- blue histiocytosis OMIM
Lipoprotein glomerulopathy OMIM APOPT1 20492 NM_032374.4 1-5 APOPT1 deficiency OMIM
APPL1 24035 NM_012096.2 1-22 APPL1 deficiency OMIM
Maturity-onset diabetes of the young type 14 OMIM
APRT 626 NM_000485.2 1-5 Adenine phosphoribosyltransferase deficiency OMIM
APTX 15984 NM_175073.2 3-9 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM AQP7 640 NM_001170.2 2-8 2-8 Aquaporin 7 deficiency OMIM
Hyperglyceroluria with mild platelet secretion defect OMIM
AR 644 NM_000044.4 1-8 Androgen receptor deficiency OMIM
Androgen insensitivity syndrome OMIM X-linked spinal and bulbar muscular atrophy OMIM
Kennedy disease OMIM ARG1 19168 NM_000045.3 1-8 Arginase deficiency OMIM
Argininemia OMIM
ARSA 713 NM_000487.5 1-8 Arylsulfatase A deficiency OMIM Metachromatic leukodystrophy OMIM ARSB 714 NM_000046.4 1-8 N-acetylgalactosamine 4-sulfatase
deficiency OMIM
Mucopolysaccharidosis type 6;
Maroteaux-Lamy syndrome;
arylsulfatase B deficiency OMIM
ASAH1 735 NM_177924.4 1-14 Acid ceramidase deficiency, inflammatory phenotype OMIM Farber disease OMIM
Acid ceramidase deficiency, primary neurologic phenotype OMIM
Spinal muscular atrophy with
progressive myoclonic epilepsy OMIM ASL 746 NM_000048.3 2-17 Argininosuccinate lyase deficiency OMIM
Argininosuccinase deficiency;
argininosuccinic aciduria OMIM
ASNS 753 NM_133436.3 3-13 3-13 Asparagine synthetase deficiency OMIM
ASPA 756 NM_000049.2 1-6 Aspartoacylase deficiency OMIM Canavan disease; aminoacylase 2 deficiency OMIM
ASS1 758 NM_000050.4 3-16 Argininosuccinate synthetase deficiency OMIM
Citrullinemia OMIM
ATAD1 25903 NM_032810.3 10 2-10 Thorase deficiency OMIM Hyperekplexia type 4 OMIM ATAD3A 25567 NM_001170535.21-16 1-16 ATAD3A deficiency OMIM
Harel-Yoon syndrome OMIM
ATG5 589 NM_004849.3 2-8 ATG5 deficiency OMIM
ATIC 794 NM_004044.6 1-16 AICAR transformylase/IMP
cyclohydrolase deficiency OMIM ATP13A2 30213 NM_022089.3 1-29 ATP13A2 deficiency OMIM
Neuronal ceroid lipofuscinosis type 12;
Kufor-Rakeb syndrome; Parkinson disease type 9; autosomal recessive spastic paraplegia type 78 OMIM
ATP5A1 823 NM_001001937.1 2-13 Mitochondrial ATP synthase F1 subunit a deficiency OMIM
ATP5D 837 NM_001687.4 1-4 Mitochondrial ATP synthase F1 subunit ? deficiency OMIM
ATP5E 838 NM_006886.3 1-2 Mitochondrial ATP synthase F1 subunit e deficiency OMIM
ATP6AP1 868 NM_001183.5 1-10 ATP6AP1-CDG OMIM
Immunodeficiency type 47 OMIM ATP6AP2 18305 NM_005765.2 1-9 ATP6AP2-CDG OMIM
X-linked mental retardation, Hedera type OMIM
ATP6V0A2 18481 NM_012463.3 1-20 ATP6V0A2-CDG OMIM
Autosomal recessive cutis laxa type 2A (wrinkly skin syndrome) OMIM
ATP6V1A 851 NM_001690.3 2-15 ATP6V1A-CDG OMIM
Autosomal recessive cutis laxa type 2D OMIM
ATP6V1E1 857 NM_001696.3 1-9 ATP6V1E1-CDG OMIM
Autosomal recessive cutis laxa type 2C OMIM
ATP7A 869 NM_000052.6 2-23 Copper-transporting ATPase ? subunit deficiency OMIM
Menkes disease (severe); occipital horn syndrome (milder) OMIM
ATP7A-related distal motor neuropathy OMIM
X-linked distal spinal muscular atrophy type+3 OMIM
ATP7B 870 NM_000053.3 1-21 Copper-transporting ATPase ? subunit deficiency OMIM
Wilson disease; hepatolenticular degeneration OMIM
ATP8A2 13533 NM_016529.5 1-37 Phospholipid-transporting ATPase IB deficiency OMIM
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4 OMIM
ATP8B1 3706 NM_005603.6 2-28 Phosphatidylserine translocator deficiency OMIM
Progressive familial intrahepatic cholestasis type 1 (severe); benign
recurrent intrahepatic cholestasis type 1 (milder) OMIM
ATPAF2 18802 NM_145691.3 1-8 Mitochondrial ATP synthase F1 assembly factor 2 deficiency OMIM
AUH 890 NM_001698.2 1-10 3-methylglutaconyl-CoA+hydratase deficiency OMIM
3-methylglutaconic aciduria type 1 OMIM B3GALNT2 28596 NM_152490.4 1-12 ?-1,3-galactosaminyltransferase 2
deficiency OMIM MDDGA11 OMIM
B3GALT6 17978 NM_080605.3 1 ?-1,3-galactosyltransferase 6 deficiency OMIM
Spondyloepimetaphyseal dysplasia with joint laxity type 1; progeroid Ehlers- Danlos syndrome type 2 OMIM
B3GALTL 20207 NM_194318.3 1-15 Fucose-specific ?-1,3-glucosyltransferase deficiency OMIM
Peters-Plus syndrome OMIM
B3GAT3 923 NM_012200.3 3-5 1-5 ?-1,3-glucuronyltransferase 3 deficiency OMIM
Larsen-like syndrome OMIM
B3GNT1 15685 NM_006876.2 1-2 ?-1,4-glucuronyltransferase 1 deficiency OMIM
MDDGA13 OMIM
B4GALNT1 4117 NM_001478.4 2-11 GM2/GD2 synthase deficiency OMIM Autosomal recessive spastic paraplegia type 26 OMIM
B4GALT1 924 NM_001497.3 1-6 ?-1,4-galactosyltransferase deficiency OMIM
B4GALT7 930 NM_007255.2 1-6 ?-1,4-galactosyltransferase 7 deficiency OMIM
Progeroid Ehlers-Danlos syndrome type 1; Larsen of Reunion Island syndrome
BAAT 932 NM_001701.3 2-4 Bile acid-CoA:amino acid N- acyltransferase deficiency OMIM
BBOX1 964 NM_003986.2 3-9 ?-butyrobetaine hydroxylase deficiency OMIM
BCAT2 977 NM_001284325.1 4-12 Branched-chain aminotransferase 2 deficiency OMIM
Hypervalinemia and hyperleucine- isoleucinemia OMIM
BCKDHA 986 NM_000709.3 1-9 Branched-chain ketoacid
dehydrogenase E1? deficiency OMIM Maple syrup urine disease type 1a OMIM BCKDHB 987 NM_183050.3 1-10 Branched-chain ketoacid
dehydrogenase E1? deficiency OMIM Maple syrup urine disease type 1b OMIM BCKDK 16902 NM_005881.3 2-12 Branched-chain ketoacid
dehydrogenase kinase+deficiency OMIM BCMO1 13815 NM_017429.2 1-11 ?-carotene 15,15'-dioxygenase deficiency
OMIM
Hypercarotenemia and vitamin A deficiency OMIM
BCS1L 1020 NM_004328.4 3-9 BCS1L deficiency OMIM
GRACILE syndrome; Bjornstad syndrome OMIM
BLK 1057 NM_001715.2 2-13 BLK deficiency OMIM
Maturity-onset diabetes of the young type 11 OMIM
BLVRA 1062 NM_000712.3 2-8 Biliverdin reductase ? deficiency OMIM Hyperbiliverdinemia OMIM
BOLA3 24415 NM_212552.2 1-4 BOLA3 deficiency OMIM
Multiple mitochondrial dysfunctions syndrome type 2 with hyperglycinemia OMIM
BTD 1122 NM_000060.4 1-4 Biotinidase deficiency OMIM
C10orf2 1160 NM_021830.4 1-5 TWINKLE mitochondrial DNA helicase deficiency OMIM
Mitochondrial DNA depletion syndrome type 7; Perrault syndrome+type 5; arPEO with mitochondrial DNA deletions type 5 OMIM
C11orf83 34399 NM_001085372.2 1-2 UQCC3 deficiency OMIM
C12orf65 26784 NM_152269.4 2-3 C12orf65 release factor deficiency OMIM Combined oxidative
phosphorylation+deficiency+type 7;
autosomal recessive spastic paraplegia type 55 OMIM
C19orf12 25443 NM_001031726.3 1-3 ?Spastic paraplegia 43, autosomal recessive OMIM
Neurodegeneration with brain iron accumulation 4 OMIM
C19orf70 33702 NM_205767.2 1-4 MICOS complex subunit MIC13 deficiency OMIM
QIL1 deficiency OMIM
C1GALT1C1 24338 NM_001011551.2 2 Core 1 ?-1,3-galactosyltransferase chaperone deficiency OMIM
Tn polyagglutination syndrome OMIM C1QBP 1243 NM_001212.3 1-6 C1q binding protein deficiency OMIM
Combined oxidative phosphorylation deficiency+type 33 OMIM
CA5A 1377 NM_001739.1 1-7 1-7 Carbonic anhydrase VA deficiency OMIM
CACNA1A 1388 NM_001127221.1 1-47 Epileptic encephalopathy, early infantile, 42 OMIM
Episodic ataxia, type 2 OMIM
Migraine, familial hemiplegic, 1 OMIM Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia OMIM Spinocerebellar ataxia 6 OMIM CAD 33904 NM_004341.4 1-44 CAD trifunctional protein deficiency
OMIM
CANT1 19721 NM_138793.3 2-4 UDP-galactose nucleotidase deficiency OMIM
Desbuquois dysplasia type 1; multiple epiphyseal dysplasia type 7 OMIM
CARKD 25576 NM_001242881.1 1-10 NAD(P)HX dehydratase deficiency OMIM CARKD deficiency OMIM
CARS2 25695 NM_024537.3 1-15 Mitochondrial cysteinyl-tRNA synthetase deficiency OMIM
Combined oxidative phosphorylation deficiency type 27 OMIM
CAT 1516 NM_001752.3 1-13 Catalase deficiency OMIM
Acatalasemia OMIM
CBS 1550 NM_000071.2 3-17 Cystathionine ?-synthase deficiency OMIM
Classical homocystinuria OMIM CCDC115 28178 NM_032357.3 1-5 CCDC115-CDG OMIM
CCDC88C 19967 NM_001080414.3 1-30 ?Spinocerebellar ataxia 40 OMIM Hydrocephalus, nonsyndromic, autosomal recessive OMIM
CD320 16692 NM_016579.3 1-5 Transcobalamin receptor deficiency OMIM
CEP89 25907 NM_032816.4 1-19 CEP89 deficiency OMIM
CERS1 14253 NM_021267.4 1-7 Ceramide synthase 1 deficiency OMIM
CERS2 14076 NM_181746.3 2-11 Ceramide synthase 2 deficiency OMIM
CERS3 23752 NM_178842.4 4-13 Ceramide synthase 3 deficiency OMIM Autosomal recessive congenital
ichthyosis type 9 OMIM
CETP 1869 NM_000078.2 1-16 Cholesteryl ester transfer protein deficiency OMIM
Hyperalphalipoproteinemia type 1 OMIM
CHCHD10 15559 NM_213720.2 1-4 ?Myopathy, isolated mitochondrial, autosomal dominant OMIM
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 OMIM Spinal muscular atrophy, Jokela type OMIM
CHKB 1938 NM_005198.4 1-11 Choline kinase ? deficiency OMIM Congenital muscular dystrophy, megaconial type OMIM
CHST11 17422 NM_001173982.1 1-3 Chondroitin 4-sulfotransferase 1 deficiency OMIM
CHST14 24464 NM_130468.3 1 Dermatan 4-sulfotransferase 1 deficiency OMIM
Ehlers-Danlos syndrome
musculocontractural type 1 OMIM CHST3 1971 NM_004273.4 2-3 Chondroitin 6-sulfotransferase
deficiency OMIM
Autosomal recessive Larsen syndrome;
spondyloepiphyseal dysplasia Omani type; humerospinal dysostosis OMIM CHST6 6938 NM_021615.4 3 Corneal N-acetylglucosamine 6-O-
sulfotransferase deficiency OMIM Macular corneal dystrophy OMIM CHSY1 17198 NM_014918.4 1-3 Chondroitin sulfate synthase 1
deficiency OMIM
Temtamy preaxial brachydactyly syndrome OMIM
CISD2 24212 NM_001008388.43 1-3 Wolfram syndrome 2 OMIM
CLDN10 2033 NM_182848.3 1-5 Claudin 10 deficiency OMIM
Hypohydrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis and xerostomia (HELIX) syndrome OMIM CLDN16 2037 NM_006580.3 1-5 Claudin 16 deficiency OMIM
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis type 1; renal hypomagnesemia type 3
CLDN19 2040 NM_148960.2 1-5 Claudin 19 deficiency OMIM Familial hypomagnesemia with hypercalciuria and nephrocalcinosis type 2; renal hypomagnesemia type 5 with ocular involvement OMIM
CLN3 2074 NM_001042432.1 2-16 Neuronal ceroid lipofuscinosis type 3 OMIM
Vogt-Spielmeyer disease OMIM
CLN5 2076 NM_006493.2 1-4 Neuronal ceroid lipofuscinosis type 5 OMIM
CLN6 2077 NM_017882.2 1-7 Neuronal ceroid lipofuscinosis type 6 OMIM
Autosomal recessive Kufs disease type A OMIM
CLN8 2079 NM_018941.3 2-3 Neuronal ceroid lipofuscinosis type 8 OMIM
CLPB 30664 NM_001258394.2 1-18 CLPB deficiency OMIM
3-methylglutaconic aciduria type 7, with cataracts, neurologic involvement and neutropenia OMIM
CLPP 2084 NM_006012.2 1-6 CLPP deficiency OMIM
Perrault syndrome type 3 OMIM
CLPX 2088 NM_006660.4 1-14 CLPX deficiency OMIM
CMPK2 27015 NM_207315.3 1-5 Mitochondrial UMP-CMP+kinase+2 deficiency OMIM
CNKSR2 19701 NM_001168647.2 1-21 Nonsyndromic X-linked mental retardation PubMed
CNNM2 103 NM_017649.4 1-8 Cyclin M2 deficiency OMIM
Renal hypomagnesemia type 6 OMIM COA3 24990 NM_001040431.2 1-2 Cytochrome c oxidase assembly factor 3
deficiency OMIM
COA5 33848 NM_001008215.2 1-3 Cytochrome c oxidase assembly factor 5 deficiency OMIM
COA6 18025 NM_001206641.2 1-3 Cytochrome c oxidase assembly factor 6 deficiency OMIM
COA7 25716 NM_023077.2 1-3 Cytochrome c oxidase assembly factor 7 deficiency OMIM
COASY 29932 NM_025233.6 1-9 Coenzyme A synthase deficiency OMIM Coenzyme A synthase protein-
associated neurodegeneration (CoPAN);
neurodegeneration with brain iron accumulation type 6 OMIM
COG1 6545 NM_018714.2 1-14 Conserved oligomeric Golgi complex subunit 1 deficiency OMIM
COG1-CDG OMIM
COG2 6546 NM_001145036.1 1-18 Conserved oligomeric Golgi complex subunit 2 deficiency OMIM
COG4 18620 NM_015386.2 1-19 Conserved oligomeric Golgi complex subunit 4 deficiency OMIM
COG4-CDG OMIM
COG5 14857 NM_006348.3 1-22 Conserved oligomeric Golgi complex subunit 5 deficiency OMIM
COG5-CDG OMIM
COG6 18621 NM_020751.2 1-19 Conserved oligomeric Golgi complex subunit 6 deficiency OMIM
COG6-CDG OMIM
COG7 18622 NM_153603.3 1-17 Conserved oligomeric Golgi complex subunit 7 deficiency OMIM
COG7-CDG OMIM
COG8 18623 NM_032382.4 1-5 Conserved oligomeric Golgi complex subunit 8 deficiency OMIM
COG8-CDG OMIM
COL4A3BP 2205 NM_001130105.1 1-18 Ceramide transfer protein superactivity OMIM
Autosomal dominant mental retardation type 34 OMIM COQ2 25223 NM_015697.8 1-7 COQ2 deficiency OMIM
Primary coenzyme Q10 deficiency type 1 OMIM
COQ4 19693 NM_016035.4 1-7 COQ4 deficiency OMIM
Primary coenzyme Q10 deficiency type 7 OMIM
COQ5 28722 NM_032314.3 1-7 COQ5 deficiency OMIM
COQ6 20233 NM_182476.2 1-12 COQ6 deficiency OMIM
Primary coenzyme Q10 deficiency type 6 OMIM
COQ7 2244 NM_016138.4 1-6 COQ7 deficiency OMIM
Primary coenzyme Q10 deficiency type 8 OMIM
COQ9 25302 NM_020312.3 1-9 COQ9 deficiency OMIM
Primary coenzyme Q10 deficiency type 5 OMIM
COX10 2260 NM_001303.3 6 1-7 COX10 deficiency OMIM
COX14 28216 NM_032901.3 2 Cytochrome c oxidase assembly factor 14 deficiency OMIM
COX15 2263 NM_004376.6 1-9 COX15 deficiency OMIM
COX20 26970 NM_198076.5 1-4 COX20 deficiency OMIM
COX4I2 16232 NM_032609.2 2-5 Cytochrome c oxidase subunit 4I2 deficiency OMIM
Exocrine pancreatic insufficiency,
dyserythropoietic anemia, and calvarial hyperostosis OMIM
COX6A1 2277 NM_004373.3 1-3 Cytochrome c oxidase subunit 6A1 deficiency OMIM
Recessive intermediate Charcot-Marie- Tooth disease type D OMIM
COX6B1 2280 NM_001863.4 2-4 Cytochrome c oxidase subunit 6B1 deficiency OMIM
COX7B 2291 NM_001866.2 1-3 Cytochrome c oxidase subunit 7B deficiency OMIM
Linear skin defects with multiple congenital anomalies type 2 OMIM COX8A 2294 NM_004074.2 1-2 Cytochrome c oxidase subunit 8A
deficiency OMIM
CP 2295 NM_000096.3 19 1-19 Hereditary ceruloplasmin deficiency OMIM
Aceruloplasminemia OMIM
CPOX 2321 NM_000097.7 1-7 Coproporphyrinogen oxidase deficiency OMIM
Hereditary coproporphyria OMIM Harderoporphyria OMIM
CPS1 2323 NM_001875.4 1-38 Carbamoylphosphate synthetase I deficiency OMIM
CPT1A 2328 NM_001876.3 2-19 Carnitine palmitoyltransferase 1A deficiency OMIM
CPT1C 18540 NM_152359.2 2-19 Carnitine palmitoyltransferase 1C deficiency OMIM
CPT2 2330 NM_000098.2 1-5 Carnitine palmitoyltransferase 2 deficiency OMIM
CRAT 2342 NM_001257363.2 3-15 Carnitine+acetyltransferase deficiency OMIM
CSGALNACT1 24290 NM_001130518.1 4-10 Chondroitin sulfate N-
acetylgalactosaminyltransferase 1 deficiency OMIM
CTH 17149 NM_001902.5 1-12 Cystathionine ?-lyase deficiency OMIM Cystathioninuria OMIM
CTNS 2518 NM_004937.2 3-12 Cystinosin deficiency OMIM Cystinosis OMIM
CTSA 9251 NM_000308.3 1-15 Cathepsin A deficiency OMIM Galactosialidosis OMIM
CTSC 2528 NM_001814.5 1-7 Cathepsin C deficiency OMIM
Papillon-Lefevre syndrome; Haim-Munk syndrome OMIM
CTSD 2529 NM_001909.4 1-9 Cathepsin D deficiency OMIM
Neuronal ceroid lipofuscinosis type 10 OMIM
CTSF 2531 NM_003793.3 1-13 Cathepsin F deficiency OMIM
Autosomal recessive Kufs disease type B OMIM
CTSK 2536 NM_000396.3 2-8 Cathepsin K deficiency OMIM Pycnodysostosis OMIM
CUBN 2548 NM_001081.3 41-50,
61-67 1-67 Cubilin deficiency OMIM
Imerslund-Grosbeck disease, Finnish type OMIM
CWF19L1 25613 NM_018294.5 1-14 Spinocerebellar ataxia, autosomal recessive 17 OMIM
CYB5A 2570 NM_001914.3 1-4 Cytochrome b5 deficiency OMIM
CYB5R3 2873 NM_000398.6 1-9 NADH-cytochrome b5 reductase deficiency OMIM
NADH diaphorase deficiency OMIM CYC1 2579 NM_001916.4 1-7 Mitochondrial cytochrome c1 deficiency
OMIM
CYCS 19986 NM_018947.5 2-3 2-3 Mitochondrial cytochrome c deficiency OMIM
Thrombocytopenia type 4 OMIM CYP11A1 2590 NM_000781.2 1-9 Side-chain cleavage enzyme deficiency
OMIM
Desmolase deficiency OMIM
CYP11B1 2591 NM_000497.3 1-9 1-9 11-?-hydroxylase deficiency OMIM 11-?-hydroxylase superactivity OMIM Glucocorticoid remediable
aldosteronism OMIM
CYP11B2 2592 NM_000498.3 1-9 1-9 Steroid 18-hydroxylase deficiency OMIM Aldosterone synthase deficiency;
corticosterone methyloxidase type 1 deficiency OMIM
Steroid 18-oxidase deficiency OMIM Corticosterone methyloxidase type 2 deficiency OMIM
CYP17A1 2593 NM_000102.3 1-8 17-hydroxylase/17,20-lyase deficiency OMIM
CYP19A1 2594 NM_031226.2 3-11 Aromatase deficiency OMIM Aromatase superactivity OMIM CYP21A2 2600 NM_000500.8 1-10 1-10 21-hydroxylase deficiency OMIM
CYP24A1 2602 NM_000782.4 1-11 Vitamin D 24-hydroxylase deficiency OMIM
Infantile hypercalcemia type 1 OMIM CYP26B1 20581 NM_019885.3 1-6 Retinoic acid-metabolizing cytochrome
deficiency OMIM
Craniosynostosis with radiohumeral fusions and other skeletal and
craniofacial anomalies OMIM
CYP27A1 2605 NM_000784.3 1-9 Sterol 27-hydroxylase deficiency OMIM Cerebrotendinous xanthomatosis OMIM CYP27B1 2606 NM_000785.3 1-9 1-?-hydroxylase deficiency OMIM
Vitamin D-dependent rickets type 1A OMIM
CYP2R1 20580 NM_024514.4 1-5 Vitamin D 25-hydroxylase deficiency OMIM
Vitamin D-dependent rickets type 1B OMIM
CYP2U1 20582 NM_183075.2 1-5 CYP2U1 deficiency OMIM
Autosomal recessive spastic paraplegia type 56 OMIM
CYP4F22 26820 NM_173483.3 3-14 CYP4F22 omega hydroxylase deficiency OMIM
Autosomal recessive congenital ichthyosis type 5 OMIM
CYP7A1 2651 NM_000780.3 1-6 Cholesterol 7?-hydroxylase deficiency OMIM
CYP7B1 2652 NM_004820.4 1-6 Oxysterol 7?-hydroxylase deficiency OMIM
Congenital bile acid synthesis defect type 3; autosomal recessive spastic
D2HGDH 28358 NM_152783.4 2-10 D-2-hydroxyglutarate dehydrogenase deficiency OMIM
D-2-hydroxyglutaric aciduria type 1 OMIM
DARS 2678 NM_001349.3 1-16 Hypomyelination with brainstem and spinal cord involvement and leg spasticity OMIM
DARS2 25538 NM_018122.4 1-17 Mitochondrial aspartyl-tRNA synthetase deficiency OMIM
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation OMIM
DBH 2689 NM_000787.3 1-12 Dopamine ?-hydroxylase deficiency OMIM
DBT 2698 NM_001918.3 1-11 Dihydrolipoyl transacylase deficiency OMIM
Maple syrup urine disease type 2;
branched-chain ketoacid
dehydrogenase E2 deficiency OMIM DCAF17 25784 NM_025000.3 1-14 Woodhouse-Sakati syndrome OMIM
DCXR 18985 NM_016286.3 1-8 L-xylulose reductase deficiency OMIM Pentosuria; xylitol dehydrogenase deficiency OMIM
DDC 2719 NM_000790.3 2-14 Aromatic L-amino acid decarboxylase deficiency OMIM
DOPA decarboxylase deficiency OMIM DDHD1 19714 NM_001160147.1 1-13 DDHD1 deficiency OMIM
Autosomal recessive spastic paraplegia type 28 OMIM
DDHD2 29106 NM_015214.2 2-17 DDHD2 deficiency OMIM
Autosomal recessive spastic paraplegia type 54 OMIM
DDOST 2728 NM_005216.4 1-11 Oligosaccharyltransferase DDOST subunit deficiency OMIM
DGAT1 2843 NM_012079.5 1-17 Diacylglycerol acyltransferase deficiency OMIM
Congenital diarrhea type 7 OMIM
DGKE 2852 NM_003647.2 2-12 Diacylglycerol kinase ? deficiency OMIM Nephrotic syndrome type 7; atypical hemolytic uremic syndrome type 7 OMIM
DGUOK 2858 NM_080916.2 1-7 Mitochondrial deoxyguanosine kinase deficiency OMIM
Mitochondrial DNA depletion syndrome type 3; arPEO with mitochondrial DNA deletions type 4; noncirrhotic portal hypertension+ OMIM
DHCR24 2859 NM_014762.3 1-9 24-dehydrocholesterol reductase deficiency OMIM
Desmosterolosis OMIM
DHCR7 2860 NM_001360.2 3-9 7-dehydrocholesterol reductase deficiency OMIM
Smith-Lemli-Opitz syndrome; RSH syndrome OMIM
DHDDS 20603 NM_024887.3 2-9 Cis-isoprenyl transferase deficiency OMIM
DHFR 2861 NM_000791.3 6 1-6 Dihydrofolate reductase deficiency OMIM
DHODH 2867 NM_001361.4 1-9 Dihydroorotate dehydrogenase deficiency OMIM
Postaxial acrofacial dysostosis; Miller syndrome; GenEenWiedemann syndrome OMIM
DHTKD1 23537 NM_018706.6 1-17 2-aminoadipic 2-oxoadipic+aciduria OMIM
Charcot-Marie-Tooth disease type 2Q OMIM
DIAPH1 2876 NM_005219.4 1-28 Deafness, autosomal dominant 1 OMIM Seizures, cortical blindness,
microcephaly syndrome OMIM
DLAT 2896 NM_001931.4 1-14 Dihydrolipoamide
acetyltransferase+deficiency OMIM Pyruvate dehydrogenase E2 deficiency OMIM
DLD 2898 NM_000108.4 1-14 Dihydrolipoamide dehydrogenase deficiency OMIM
E3 deficiency OMIM
DMGDH 24475 NM_013391.3 1-16 Dimethylglycine dehydrogenase deficiency OMIM
Dimethylglycinuria OMIM
DNA2 2939 NM_001080449.2 1-21 DNA2 helicase deficiency OMIM adPEO with mitochondrial DNA deletions type 6 OMIM
DNAJC12 28908 NM_021800.2 1-5 DNAJC12 deficiency OMIM
Non-tetrahydrobiopterin-deficient hyperphenylalaninemia OMIM DNAJC19 30528 NM_145261.3 1-6 DNAJC19 deficiency OMIM
Dilated cardiomyopathy with ataxia (DCMA syndrome); 3-methylglutaconic aciduria type 5 OMIM
DNAJC3 9439 NM_006260.4 1-12 ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus OMIM
DNAJC5 16235 NM_025219.2 2-5 Neuronal ceroid lipofuscinosis type 4 (Parry type) OMIM
Autosomal dominant Kufs disease OMIM DNM1L 2973 NM_012062.4 1-20 Dynamin-like protein 1 deficiency OMIM
Optic atrophy type 5; encephalopathy due to defective mitochondrial and peroxisomal fission type 1 OMIM DOLK 23406 NM_014908.3 1 Dolichol kinase deficiency OMIM
DOLK-CDG OMIM
DPAGT1 2995 NM_001382.3 1-9 N-acetylglucosamine-1-phosphate transferase deficiency OMIM DPAGT1-CDG OMIM
DPM1 3005 NM_003859.2 1-9 Dolichol-phosphate mannose synthase subunit 1 deficiency OMIM
DPM1-CDG OMIM
DPM2 3006 NM_003863.3 1-4 Dolichol-phosphate mannose synthase subunit 2 deficiency OMIM
DPM2-CDG OMIM
DPM3 3007 NM_153741.1 2 Dolichol-phosphate mannose synthase subunit 3 deficiency OMIM
DPM3-CDG OMIM
DPYD 3012 NM_000110.3 1-23 Dihydropyrimidine dehydrogenase deficiency OMIM
DPYS 3013 NM_001385.2 1-9 Dihydropyrimidinase deficiency+ OMIM Dihydropyrimidinuria OMIM
DSE 21144 NM_013352.3 6 2-6 Dermatan sulfate epimerase deficiency OMIM
Ehlers-Danlos syndrome
musculocontractural type 2 OMIM DUOX2 13273 NM_014080.4 5-8 2-34 Thyroid dyshormonogenesis 6 OMIM
DUOXA2 32698 NM_207581.3 1-6 Thyroid dyshormonogenesis 5 OMIM
E4F1 3121 NM_004424.4 1-14 ?Leigh disease PubMed
EARS2 29419 NM_001083614.1 1-9 Mitochondrial glutamyl-tRNA synthetase deficiency OMIM
Combined oxidative phosphorylation deficiency type 12 OMIM
EBP 3133 NM_006579.2 2-5 X-linked dominant sterol ?8-?7 isomerase deficiency OMIM
X-linked dominant chondrodysplasia punctata type 2; Conradi-Hunermann- Happle syndrome OMIM
X-linked recessive sterol ?8-?7 isomerase deficiency OMIM
Male EBP disorder with neurologic defects (MEND syndrome) OMIM ECHS1 3151 NM_004092.3 1-8 Mitochondrial short-chain enoyl-CoA
hydratase 1+deficiency OMIM Crotonase deficiency OMIM
EGF 3229 NM_001963.5 1-24 Epidermal growth factor deficiency OMIM
EHHADH 3247 NM_001966.3 1-7 L-bifunctional protein deficiency OMIM Fanconi renotubular syndrome type 3 OMIM
EIF2B1 3257 NM_001414.3 1-9 Leukoencephalopathy with vanishing white matter OMIM
EIF2B2 3258 NM_014239.3 1-8 Leukoencephalopathy with vanishing white matter OMIM
Ovarioleukodystrophy OMIM
EIF2B3 3259 NM_020365.4 2-12 Leukoencephalopathy with vanishing white matter OMIM
EIF2B4 3260 NM_015636.3 1-13 Leukoencephalopathy with vanishing white matter OMIM
Ovarioleukodystrophy OMIM
EIF2B5 3261 NM_003907.2 1-16 Leukoencephalopathy with vanishing white matter OMIM
Ovarioleukodystrophy OMIM ELAC2 14198 NM_018127.6 1-24 Ribonuclease Z 3' tRNA processing
enzyme deficiency OMIM
Combined oxidative phosphorylation deficiency 17 OMIM
ELOVL1 14418 NM_001256402.1 3-7 Very long-chain fatty acid elongase 1 deficiency OMIM
Ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features (IKSHD) OMIM
ELOVL4 14415 NM_022726.3 1-6 Very long-chain fatty acid elongase 4 deficiency, neurologic phenotype OMIM Pseudo-Sjogren-Larsson syndrome (recessive); spinocerebellar ataxia type 34 (dominant) OMIM
Very long-chain fatty acid elongase 4 deficiency, retinal phenotype OMIM Stargardt disease type 3 OMIM ELOVL5 21308 NM_021814.4 2-8 Very long-chain fatty acid elongase 5
deficiency OMIM
Spinocerebellar ataxia type 38 OMIM
ENO3 3354 NM_053013.3 2-12 Enolase ? deficiency OMIM
Glycogen storage disease+type 13 OMIM ENPP1 3356 NM_006208.2 1-25 Ectonucleotide pyrophosphatase 1
deficiency OMIM
Generalized arterial calcification of infancy type 1; autosomal recessive hypophosphatemic rickets type 2 OMIM Ectonucleotide pyrophosphatase 1 dimerization deficiency OMIM Cole disease OMIM
EOGT 28526 NM_173654.2 4-15 EGF domain-specific O-linked N- acetylglucosamine+transferase deficiency OMIM
Adams-Oliver syndrome type 4 OMIM EPG5 29331 NM_020964.3 1-44 EPG5 deficiency OMIM
Vici syndrome OMIM
EPHX1 3401 NM_000120.3 2-9 Microsomal epoxide hydrolase deficiency OMIM
Familial hypercholanemia OMIM EPM2A 3413 NM_005670.3 1-4 Laforin deficiency OMIM
Progressive myoclonic epilepsy type 2A OMIM
EPT1 29361 NM_033505.3 1-10 Ethanolaminephosphotransferase 1 deficiency OMIM
ERCC6 3438 NM_000124.3 2-21 Cerebrooculofacioskeletal syndrome 1 OMIM
Cockayne syndrome, type B OMIM De Sanctis-Cacchione syndrome OMIM UV-sensitive syndrome 1 OMIM
ESR1 3467 NM_000125.3 1-8 Estrogen receptor deficiency OMIM Estrogen resistance OMIM
ETFA 3481 NM_000126.3 1-12 Electron transfer flavoprotein ? subunit deficiency OMIM
Glutaric acidemia type 2A; multiple acyl- CoA dehydrogenase deficiency type 2A OMIM
ETFB 3482 NM_001985.2 1-6 Electron transfer flavoprotein ? subunit deficiency OMIM
Glutaric acidemia type 2B; multiple acyl- CoA dehydrogenase deficiency type 2B OMIM
ETFDH 3483 NM_004453.3 1-13 Electron transfer flavoprotein dehydrogenase deficiency OMIM
Glutaric acidemia type 2C; multiple acyl- CoA dehydrogenase deficiency type 2C OMIM
ETHE1 23287 NM_014297.4 1-7 Mitochondrial sulfur dioxygenase deficiency OMIM
Ethylmalonic encephalopathy OMIM EXOSC8 17035 NM_181503.2 1-11 Pontocerebellar hypoplasia, type 1C
OMIM
EXT1 3512 NM_000127.2 1-11 Exostosin glycosyltransferase 1 deficiency OMIM
Multiple hereditary exostoses type 1 OMIM
EXT2 3513 NM_207122.1 2-14 Exostosin glycosyltransferase 2 deficiency OMIM
Multiple hereditary exostoses type 2 OMIM
EXTL3 3518 NM_001440.3 3-7 Exostosin-like glycosyltransferase 3 deficiency OMIM
Immunoskeletal dysplasia with neurodevelopmental abnormalities OMIM
FA2H 21197 NM_024306.4 1-7 Fatty acid 2-hydroxylase deficiency OMIM
Autosomal recessive spastic paraplegia type 35; fatty acid hydroxylase-
associated neurodegeneration+(FAHN) OMIM
FAH 3582 NM_000137.2 1-14 Fumarylacetoacetase deficiency OMIM Tyrosinemia type 1 OMIM
FAR1 26222 NM_032228.5 12 2-12 Fatty Acyl-CoA reductase 1 (FAR1) deficiency OMIM
FARS2 21062 NM_006567.4 2-7 Mitochondrial phenylalanyl-tRNA synthetase deficiency OMIM
Combined oxidative phosphorylation deficiency type 14 OMIM
FASTKD2 29160 NM_014929.3 2-12 FASTKD2 deficiency OMIM
FBP1 3606 NM_000507.3 1-7 Fructose-1,6-bisphosphatase deficiency OMIM
FBXL4 13601 NM_012160.4 3-9 FBXL4 deficiency OMIM
Mitochondrial DNA depletion syndrome type 13 OMIM
FDFT1 3629 NM_004462.4 1-8 Squalene synthase deficiency OMIM Farnesyldiphosphate
farnesyltransferase 1 deficiency OMIM FDPS 3631 NM_001242825.1 3-9 Farnesyl diphosphate synthase
deficiency OMIM
Porokeratosis type 9 OMIM FDX1L 30546 NM_001031734.3 1-5 Ferredoxin 2 deficiency OMIM
FDXR 3642 NM_001258014.3 1-12 Ferredoxin reductase deficiency OMIM Auditory neuropathy and optic atrophy OMIM
FECH 3647 NM_000140.3 1-11 Ferrochelatase deficiency OMIM Erythropoietic protoporhyria OMIM FH 3700 NM_000143.3 1-10 Fumarate hydratase deficiency OMIM
Fumarase deficiency OMIM
Fumarate hydratase deficiency, tumoral phenotype OMIM
Reed syndrome OMIM
FIG4 16873 NM_014845.5 1-23 Phosphatidylinositol 3,5-bisphosphate- 5-phosphatase deficiency, neurologic phenotype OMIM
Amyotrophic lateral sclerosis type 11 (dominant); Charcot-Marie-Tooth disease type 4J (recessive) OMIM
Phosphatidylinositol 3,5-bisphosphate- 5-phosphatase deficiency, neuroskeletal phenotype OMIM
Yunis-Varon syndrome OMIM
FKRP 17997 NM_024301.4 4 Fukutin-related protein deficiency OMIM MDDGA5; MDDGB5; MDDGC5 OMIM FKTN 3622 NM_001079802.1 3-11 Fukutin deficiency OMIM
MDDGA4; MDDGB4; MDDGC4 OMIM FLAD1 24671 NM_025207.4 1-7 Flavin adenine dinucleotide synthetase
deficiency OMIM
FMO3 3771 NM_006894.5 2-9 Flavin monooxygenase 3 deficiency OMIM
Primary trimethylaminuria OMIM FOLR1 3791 NM_016725.2 2-5 Folate receptor ? deficiency OMIM
Neurodegeneration due to cerebral folate transport deficiency OMIM FOXE1 3806 NM_004473.3 1 Bamforth-Lazarus syndrome OMIM
FOXRED1 26927 NM_017547.3 1-11 FOXRED1 deficiency OMIM
FTCD 3974 NM_006657.2 1-14 Glutamate formiminotransferase deficiency OMIM
Formiminoglutamic aciduria OMIM FTH1 3976 NM_002032.2 1-4 Ferritin heavy chain dysregulation OMIM
FTL 3999 NM_000146.3 1-4 Ferritin light chain deficiency OMIM Hereditary L-ferritin deficiency OMIM Ferritin light chain superactivity OMIM Neuroferritinopathy;
neurodegeneration with brain iron accumulation 3 OMIM
Ferritin light chain dysregulation OMIM Hyperferritinemia-cataract syndrome OMIM
FUCA1 4006 NM_000147.4 1-8 ?-fucosidase deficiency OMIM
?-fucosidosis OMIM
FUT8 4019 NM_178155.2 3-11 ?-1,6-fucosyltransferase deficiency OMIM FUT8-CDG OMIM
FXN 3951 NM_000144.4 5 1-5 Frataxin deficiency OMIM Friedreich ataxia OMIM
FXYD2 4026 NM_001680.4 1-5 Sodium-potassium ATPase ? subunit deficiency OMIM
Autosomal dominant hypomagnesemia with hypocalciuria; renal
hypomagnesemia type 2 OMIM
G6PC 4056 NM_000151.3 1-5 Glucose-6-phosphatase deficiency OMIM Glycogen storage disease type 1a OMIM G6PC3 24861 NM_138387.3 1-6 Glucose-6-phosphatase catalytic subunit
3 deficiency OMIM
Severe congenital neutropenia type 4;
Dursun syndrome OMIM
G6PD 4057 NM_001042351.2 2-13 Glucose-6-phosphate dehydrogenase deficiency OMIM
GAA 4065 NM_000152.4 2-20 ?-glucosidase deficiency OMIM
Glycogen storage disease type 2; Pompe disease OMIM
GABBR2 4507 NM_005458.7 1-19 GABA type B receptor subunit 2 deficiency OMIM
GABRA1 4075 NM_000806.5 3-11 GABA type A receptor ?1 subunit deficiency OMIM
Early infantile epileptic encephalopathy
GABRA6 4080 NM_000811.2 1-9 GABA type A receptor ?6 subunit deficiency OMIM
GABRB1 4081 NM_000812.3 1-9 GABA type A receptor ?1 subunit deficiency OMIM
Early infantile epileptic encephalopathy type 45 OMIM
GABRB2 4082 NM_000813.2 2-10 GABA type A receptor ?2 subunit deficiency OMIM
Infantile or early childhood epileptic encephalopathy type 2 OMIM
GABRB3 4083 NM_000814.5 1-9 GABA type A receptor ?3 subunit deficiency OMIM
Early infantile epileptic encephalopathy type 43 OMIM
GABRD 4084 NM_000815.4 1-9 GABA type A receptor ? subunit deficiency OMIM
GABRG2 4087 NM_000816.3 1-9 GABA type A receptor ?2 subunit deficiency OMIM
GAD1 4092 NM_000817.2 2-17 Glutamate decarboxylase 1 deficiency OMIM
GALC 4115 NM_000153.3 1-17 ?-galactosylceramidase deficiency OMIM Globoid cell leukodystrophy; Krabbe disease OMIM
GALE 4116 NM_000403.3 3-12 Galactose epimerase deficiency OMIM Galactosemia type 3 OMIM
GALK1 4118 NM_000154.1 1-8 Galactokinase deficiency+ OMIM Galactosemia type 2 OMIM
GALNS 4122 NM_000512.4 1-14 N-acetylgalactosamine 6-sulfatase deficiency OMIM
Mucopolysaccharidosis type 4A;
Morquio syndrome type A OMIM GALNT3 4125 NM_004482.3 2-11 Polypeptide N-
acetylgalactosaminyltransferase 3 deficiency OMIM
Hyperphosphatemic familial tumoral calcinosis type 1; hyperostosis-
hyperphosphatemia syndrome OMIM
GALT 4135 NM_000155.3 1-11 Galactose-1-phosphate
uridylyltransferase deficiency OMIM Classic galactosemia; galactosemia type 1 OMIM
GAMT 4136 NM_000156.5 1-6 Guanidinoacetate methyltransferase deficiency OMIM
Cerebral creatine deficiency syndrome type 2 OMIM
GANAB 4138 NM_198335.3 1-25 ?-1,3-glucosidase II subunit ? deficiency OMIM
Polycystic kidney disease type 3 OMIM GARS 4162 NM_002047.3 1-17 Mitochondrial and cytoplasmic glycil-
tRNA synthetase deficiency OMIM Charcot-Marie-Tooth disease type 2D;
distal hereditary motor
neuronopathy+type 5A OMIM GATA1 4170 NM_002049.3 2-6 GATA1 deficiency OMIM
GATC 25068 NM_176818.2 4 1-4 Mitochondrial glutamyl-tRNA(Gln) amidotransferase subunit C deficiency OMIM
GATM 4175 NM_001482.2 1-9 Arginine:glycine amidinotransferase deficiency OMIM
Cerebral creatine deficiency syndrome type 3 OMIM
Arginine:glycine amidinotransferase aggregation syndrome OMIM
Fanconi renobular syndrome type 1;
Luder-Sheldon syndrome OMIM GBA 4177 NM_001005741.22-12 2-12 Glucocerebrosidase deficiency OMIM
Gaucher disease OMIM
GBA2 18986 NM_020944.2 1-17 Nonlysosomal glucosylceramidase deficiency OMIM
Autosomal recessive spastic paraplegia type 46 OMIM
GBE1 4180 NM_000158.3 1-16 Glycogen branching enzyme deficiency OMIM
Glycogen storage disease type 4;
Andersen disease; adult polyglucosan body disease OMIM
GCDH 4189 NM_000159.3 2-12 Glutaryl-CoA dehydrogenase deficiency OMIM
Glutaric acidemia type 1 OMIM
GCH1 4193 NM_000161.2 1-6 Autosomal+recessive GTP
cyclohydrolase+1 deficiency OMIM Autosomal+dominant GTP
cyclohydrolase+1 deficiency OMIM Segawa syndrome; dystonia type 5A OMIM
GCK 6864 NM_000162.4 1-10 Glucokinase deficiency OMIM
Permanent neonatal diabetes mellitus;
MODY type 2 OMIM
Glucokinase superactivity OMIM
Familial hyperinsulinemic hypoglycemia type 3 OMIM
GCLC 4311 NM_001498.4 1-16 ?-glutamylcysteine synthetase deficiency OMIM
Glutamate-cysteine ligase deficiency OMIM
GCSH 4208 NM_004483.4 1-5 Glycine encephalopathy due to H protein deficiency OMIM
GDAP1 15968 NM_018972.3 1-6 GDAP1 deficiency OMIM
Axonal Charcot-Marie-Tooth type 2K;
demyelinating Charcot-Marie-Tooth disease type 4A OMIM
GFER 4236 NM_005262.2 1-3 GFER deficiency OMIM
GFM1 13780 NM_024996.5 1-18 Mitochondrial elongation factor G1 deficiency OMIM
Combined oxidative
phosphorylation+deficiency+type 1 OMIM
GFM2 29682 NM_032380.4 2-21 Mitochondrial elongation factor G2 deficiency OMIM
GFPT1 4241 NM_002056.3 1-19 Glutamine:fructose-6-phosphate transaminase deficiency OMIM
Congenital myasthenic syndrome type 12 OMIM
GGCX 4247 NM_000821.6 1-15 ?-glutamyl carboxylase deficiency OMIM Combined deficiency of vitamin K-
dependent coagulation factors type 1 OMIM
GGPS1 4249 NM_001037277.1 2-4 Geranylgeranyl pyrophosphate synthase deficiency OMIM
GGT1 4250 NM_013430.2 5-16 5-16 ?-glutamyl transpeptidase deficiency OMIM
Glutathioninuria; ?-glutamyl transferase deficiency OMIM
GIF 7408 NM_005142.2 1-9 Hereditary intrinsic factor deficiency OMIM
GK 4289 NM_000167.5 19 1-19 Glycerol kinase deficiency OMIM
GLA 4296 NM_000169.2 1-7 ?-Galactosidase A deficiency OMIM Fabry disease OMIM
GLB1 4298 NM_000404.3 1-16 ?-galactosidase deficiency, GM1 gangliosidosis phenotype OMIM
?-galactosidase deficiency, Morquio syndrome phenotype OMIM
Mucopolysaccharidosis type 4B OMIM GLDC 4313 NM_000170.2 1-25 Glycine encephalopathy due to glycine
decarboxylase deficiency OMIM Nonketotic hyperglycinemia OMIM GLRA1 4326 NM_000171.3 1-9 Glycine receptor ?1 subunit deficiency
OMIM
Hereditary hyperekplexia type 1 OMIM GLRB 4329 NM_000824.4 2-10 Glycine receptor ? subunit deficiency
OMIM
Hereditary hyperekplexia type 2 OMIM
GLRX5 20134 NM_016417.2 1-2 Glutaredoxin 5 deficiency OMIM
GLS 29570 NM_014905.4 1-18 Glutaminase 1 superactivity OMIM
GLUD1 4575 NM_005271.4 2-4, 13 1-13 Glutamate dehydrogenase superactivity OMIM
Hyperinsulinism-hyperammonemia syndrome; familial hyperinsulinemic hypoglycemia type 6 OMIM
GLUL 4341 NM_002065.6 3-8 Glutamine synthetase deficiency OMIM
GLYCTK 24247 NM_145262.3 2-5 Glycerate kinase deficiency OMIM D-glyceric aciduria OMIM
GM2A 4367 NM_000405.4 1-4 GM2 activator protein deficiency OMIM GM2 gangliosidosis, AB variant OMIM GMPPA 22923 NM_205847.2 2-13 GDP-mannose pyrophosphorylase ?
subunit deficiency OMIM
Alacrima, achalasia, and mental retardation syndrome OMIM
GMPPB 22932 NM_021971.2 1-9 GDP-mannose pyrophosphorylase ? subunit deficiency OMIM
MDDGA14; MDDGB14; MDDGC14 OMIM GNE 23657 NM_001128227.2 1-12 UDP-N-acetylglucosamine-2-
epimerase/N-acetylmannosamine kinase deficiency OMIM
GNE myopathy; Nonaka myopathy OMIM UDP-N-acetylglucosamine-2-
epimerase/N-acetylmannosamine kinase superactivity OMIM
Sialuria OMIM
GNMT 4415 NM_018960.5 1-6 Glycine N-methyltransferase deficiency OMIM
GNPAT 4416 NM_014236.3 1-16 Glycerone 3-phosphate acyltransferase deficiency OMIM
Rhizomelic chondrodysplasia punctata type 2 OMIM
GNPTAB 29670 NM_024312.4 1-21 UDP-N-acetylglucosamine-1- phosphotransferase ?/? subunit deficiency OMIM
Mucolipidosis type 2, I-cell disease (severe); mucolipidosis type 3 ?/?, pseudo-Hurler polydystrophy (milder) OMIM
GNPTG 23026 NM_032520.4 1-11 UDP-N-acetylglucosamine-1-
phosphotransferase ? subunit deficiency OMIM
Mucolipidosis type 3 ? OMIM GNS 4422 NM_002076.3 1-14 N-acetylglucosamine 6-sulfatase
deficiency OMIM
Mucopolysaccharidosis type 3D;
Sanfilippo syndrome type D OMIM GOT2 4433 NM_002080.3 10 1-10 Mitochondrial aspartate
aminotransferase deficiency OMIM GPAA1 4446 NM_003801.3 1-12 GPAA1-CDG OMIM
GPI biosynthesis defect type 15 OMIM GPD1 4455 NM_005276.3 1-8 Cytosolic glycerol-3-phosphate
dehydrogenase deficiency OMIM
Transient infantile hypertriglyceridemia OMIM
GPHN 15465 NM_020806.4 1-23 Gephyrin deficiency OMIM
Molybdenum cofactor deficiency type C OMIM
GPI 4417 NM_000175.5 1-18 Glucose-6-phosphate isomerase deficiency OMIM
GPIHBP1 24945 NM_178172.5 1-4 GPIHBP1 deficiency OMIM
Hyperlipoproteinemia type 1D OMIM GPR161 23694 NM_001267610.1 3-7 ?Pituitary stalk interruption syndrome
(PSIS) PubMed
GPX4 4556 NM_001039847.2 1-7 Glutathione peroxidase 4 deficiency OMIM
Spondylometaphyseal dysplasia, Sedaghatian type OMIM
GRHPR 4570 NM_012203.1 1-9 Glyoxylate reductase/hydroxypyruvate reductase deficiency OMIM
Primary hyperoxaluria type 2 OMIM GRIA3 4573 NM_000828.4 1-15 Ionotropic glutamate receptor AMPA
type subunit 3 deficiency OMIM
Syndromic X-linked mental retardation, Wu type OMIM
GRIA4 4574 NM_000829.3 2-17 Ionotropic glutamate receptor AMPA type subunit 4 dysregulation OMIM Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) OMIM
GRIN1 4584 NM_007327.3 1-20 Ionotropic glutamate receptor NMDA type subunit 1 dysregulation OMIM Autosomal dominant mental
retardation type 8; neurodevelopmental disorder with or without hyperkinetic movements and seizures OMIM
GRIN2A 4585 NM_000833.4 3-14 Ionotropic glutamate receptor NMDA type subunit 2A dysregulation OMIM GRIN2B 4586 NM_000834.4 2-13 Ionotropic glutamate receptor NMDA
type subunit 2B dysregulation OMIM Early infantile epileptic encephalopathy type 27; autosomal dominant mental retardation type 6 OMIM
GRIN2D 4588 NM_000836.2 2-13 Ionotropic glutamate receptor NMDA type subunit 2D superactivity OMIM Early infantile epileptic encephalopathy type 46 OMIM
GRM1 4593 NM_001278066.1 1-8 Metabotropic glutamate receptor 1 deficiency OMIM
Autosomal recessive spinocerebellar ataxia type 13 OMIM
Metabotropic glutamate receptor 1 superactivity OMIM
Spinocerebellar ataxia type 44 OMIM
GRM6 4598 NM_000843.4 2-11 Metabotropic glutamate receptor 6 deficiency OMIM
Congenital stationary night blindness type 1B OMIM
GRN 4601 NM_002087.3 2-13 Progranulin deficiency OMIM
Frontotemporal lobar degeneration with TDP-43 inclusions+(dominant); neuronal ceroid lipofuscinosis type 11 (recessive) OMIM
GSR 4623 NM_000637.4 1-13 Glutathione reductase deficiency OMIM
GSS 9449 NM_000178.4 2-13 Glutathione synthetase deficiency OMIM
GSTZ1 4643 NM_145870.2 1-9 Maleylacetoacetate isomerase deficiency OMIM
Benign hypersuccinylacetonemia OMIM GTPBP3 14880 NM_133644.3 1-8 tRNA 5-taurinomethyluridine modifier
deficiency OMIM
Combined oxidative phosphorylation deficiency type 23 OMIM
GUSB 4696 NM_000181.3 11 1-12 ?-glucuronidase deficiency OMIM Mucopolysaccharidosis type 7; Sly syndrome OMIM
GYG1 4699 NM_004130.3 1-8 Muscle glycogenin 1 deficiency OMIM Glycogen storage disease type 15;
polyglucosan body myopathy type 2 OMIM
GYG2 4700 NM_003918.2 2-4 2-12 ?Leigh syndrome PubMed
GYS1 4706 NM_002103.4 1-16 Muscle glycogen synthase deficiency OMIM
Glycogen storage disease type 0b OMIM GYS2 4707 NM_021957.3 1-16 Hepatic glycogen synthase deficiency
OMIM
Glycogen storage disease type 0a OMIM
H6PD 4795 NM_004285.3 2-5 Hexose-6-phosphate dehydrogenase deficiency OMIM
Cortisone reductase deficiency type 1 OMIM
HAAO 4796 NM_012205.2 1-10 3-hydroxyanthranilic acid 3,4- dioxygenase deficiency OMIM Vertebral, cardiac, renal, and limb defects syndrome type 1 OMIM HADH 4799 NM_005327.4 1-8 Short-chain 3-hydroxyacyl-CoA
dehydrogenase deficiency OMIM
Familial hyperinsulinemic hypoglycemia type 4 OMIM
HADHA 4801 NM_000182.4 1-20 Trifunctional protein ? subunit deficiency OMIM
Long-chain hydroxyacyl-CoA dehydrogenase or complete
mitochondrial trifunctional protein deficiency OMIM
HADHB 4803 NM_000183.2 2-16 Trifunctional protein ? subunit deficiency OMIM
Complete mitochondrial trifunctional protein deficiency OMIM
Isolated mitochondrial+long-
chain+ketoacyl-CoA thiolase deficiency OMIM
HAL 4806 NM_002108.3 2-21 Histidine ammonia-lyase deficiency OMIM
Histidase deficiency; histidinemia OMIM HAMP 15598 NM_021175.3 1-3 Hepcidin deficiency OMIM
Hereditary hemochromatosis type 2B OMIM
HAO1 4809 NM_017545.2 1-8 Hydroxyacid oxidase 1 deficiency OMIM Glycolate oxidase deficiency; isolated glycolic aciduria OMIM
HARS 4816 NM_002109.5 1-13 Charcot-Marie-Tooth disease, axonal, type 2W OMIM
Usher syndrome type 3B OMIM
HARS2 4817 NM_012208.3 1-13 Mitochondrial histidyl-tRNA synthetase deficiency OMIM
Perrault syndrome type 2 OMIM
HCCS 4837 NM_005333.4 2-7 Holocytochrome c synthase deficiency OMIM
Linear skin defects with multiple congenital anomalies type 1 OMIM HCFC1 4839 NM_005334.2 1-26 Methylmalonic aciduria and
homocystinuria,+cblX type OMIM HEPACAM 26361 NM_152722.4 1-7 Megalencephalic leukoencephalopathy
with subcortical cysts 2A OMIM
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation OMIM HEXA 4878 NM_000520.5 1-14 ?-hexosaminidase ?-subunit deficiency
OMIM
GM2 gangliosidosis, B variant (Tay-Sachs disease) OMIM
HEXB 4879 NM_000521.3 1-14 ?-hexosaminidase ?-subunit deficiency OMIM
GM2 gangliosidosis, O variant (Sandhoff disease) OMIM
HFE 4886 NM_000410.3 1-6 Hereditary hemochromatosis type 1 OMIM
HFE2 4887 NM_213653.3 2-4 Hemojuvelin deficiency OMIM
Hereditary hemochromatosis type 2A OMIM
HGD 4892 NM_000187.3 1-14 Homogentisic acid oxidase deficiency OMIM
Alkaptonuria OMIM
HGSNAT 26527 NM_152419.2 1-18 Heparan-?-glucosaminide N-
acetyltransferase deficiency OMIM Mucopolysaccharidosis type 3C, Sanfilippo syndrome type C (severe), retinitis pigmentosa type 73 (milder) OMIM
HHAT 18270 NM_018194.5 2-12 Hedgehog acyltransferase deficiency
HIBADH 4907 NM_152740.3 1-8 3-hydroxyisobutyrate dehydrogenase deficiency OMIM
HIBCH 4908 NM_014362.3 1-14 3-hydroxyisobutyryl-CoA hydrolase+deficiency OMIM
?-hydroxyisobutyryl-CoA deacylase deficiency OMIM
HK1 19884 NM_000188.2 1-18 Hemolytic anemia due to hexokinase deficiency OMIM
Hereditary motor and sensory neuropathy, Russe type OMIM
Charcot-Marie-Tooth disease type 4G OMIM
Retinitis pigmentosa type 79 OMIM HLCS 4976 NM_000411.7 4-12 Holocarboxylase synthetase deficiency
OMIM
HMBS 4982 NM_000190.3 1-14 Porphobilinogen deaminase deficiency OMIM
Acute intermittent porphyria OMIM HMGCL 5005 NM_000191.2 1-9 3-Hydroxy-3-methylglutaryl-
CoA+lyase+deficiency OMIM
Hydroxymethylglutaric aciduria OMIM HMGCS2 5008 NM_005518.3 1-9 Mitochondrial 3-hydroxy-3-
methylglutaryl-CoA synthase deficiency OMIM
HMOX1 5013 NM_002133.2 1-5 Heme oxygenase 1 deficiency OMIM
HNF1A 11621 NM_000545.6 1-10 Hepatocyte nuclear factor-1? deficiency OMIM
HNF1B 11630 NM_000458.3 1-9 Hepatocyte nuclear factor-1? deficiency OMIM
HNF4A 5024 NM_175914.4 1-10 Hepatocyte nuclear factor-4? deficiency OMIM
HOGA1 25155 NM_138413.3 1-7 4-hydroxy-2-oxoglutarate aldolase 1 deficiency OMIM
Primary hyperoxaluria type 3 OMIM
HPD 5147 NM_002150.2 1-14 4-hydroxyphenylpyruvate dioxygenase deficiency OMIM
Tyrosinemia type 3 OMIM Hawkinsinuria OMIM
HPGD 5154 NM_000860.5 1-7 15-hydroxy prostaglandin
dehydrogenase deficiency OMIM
Primary hypertrophic osteoarthropathy type 1 OMIM
HPRT1 5157 NM_000194.2 1-9 Hypoxanthine guanine
phosphoribosyltransferase deficiency OMIM
Lesch-Nyhan syndrome (severe); Kelley- Seegmiller syndrome (milder) OMIM HSD11B1 5208 NM_005525.3 1-6 11-?-hydroxysteroid dehydrogenase
deficiency OMIM
Cortisone reductase deficiency type 2 OMIM
HSD11B2 5209 NM_000196.3 1-5 11-?-hydroxysteroid dehydrogenase type 2 deficiency OMIM
Apparent mineralocorticoid excess OMIM
HSD17B10 4800 NM_004493.2 1-6 HSD10 disease OMIM
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency OMIM HSD17B3 5212 NM_000197.1 1-11 17-?-hydroxysteroid dehydrogenase
deficiency OMIM
17-ketosteroid reductase deficiency;
male pseudohermaphroditism with gynecomastia OMIM
HSD17B4 5213 NM_000414.3 1-24 D-bifunctional protein deficiency OMIM Pseudo-Zellweger syndrome (severe);
Perrault syndrome type 1 (milder) OMIM HSD3B2 5218 NM_000198.3 2-4 3-?-hydroxysteroid dehydrogenase
deficiency OMIM
HSD3B7 18324 NM_025193.3 2-7 3?-Hydroxy-?5-C27-steroid
oxidoreductase deficiency OMIM Congenital bile acid synthesis defect type 1 OMIM
HSPA9 5244 NM_004134.6 1-17 HSPA9 deficiency OMIM
Sideroblastic anemia type 4; epiphyseal, vertebral, ear, nose, plus associated malformations (EVEN-plus) syndrome OMIM
HSPD1 5261 NM_002156.4 9-12 2-12 HSP60 deficiency OMIM
Hypomyelinating leukodystrophy type 4 (recessive); autosomal dominant spastic paraplegia type 13 OMIM
HTRA2 14348 NM_013247.4 1-8 HTRA2 deficiency OMIM
3-methylglutaconic aciduria type 8 OMIM HYAL1 5320 NM_153281.1 4-6 Hyaluronidase deficiency OMIM
Mucopolysaccharidosis type 9; Natowicz syndrome OMIM
IARS2 29685 NM_018060.3 1-23 Mitochondrial isoleucyl-tRNA synthetase deficiency OMIM
Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) OMIM
IBA57 27302 NM_001010867.3 1-3 IBA57 deficiency OMIM
IDH2 5383 NM_002168.3 1-11 Mitochondrial NADH-dependent
isocitrate dehydrogenase 2 superactivity OMIM
D-2-hydroxyglutaric aciduria type 2 OMIM
IDH3B 5385 NM_006899.4 1-12 Mitochondrial NADPH-dependent isocitrate dehydrogenase 3 ? subunit deficiency OMIM
IDS 5389 NM_000202.7 2-3 1-9 Iduronate sulfatase deficiency OMIM Mucopolysaccharidosis type 2; Hunter syndrome OMIM
IDUA 5391 NM_000203.4 1-14 ?-iduronidase deficiency OMIM
Mucopolysaccharidosis type 1H, Hurler syndrome (severe);
mucopolysaccharidosis type 1S, Scheie syndrome (milder) OMIM
IFIH1 18873 NM_022168.3 1-16 MDA5 superactivity OMIM
Aicardi-GoutiEres syndrome type 7;
Singleton-Merten syndrome type 1 OMIM
IMPAD1 26019 NM_017813.4 1-5 Golgi-resident phosphoadenosine phosphate phosphatase deficiency OMIM
Chondrodysplasia with joint dislocations, gPAPP type OMIM IMPDH1 6052 NM_000883.3 1-17 Inosine-5'-monophosphate
dehydrogenase deficiency OMIM Retinitis pigmentosa type 10; Leber congenital amaurosis type 11 OMIM INPP5E 18667 NM_019892.5 1-10 Inositol polyphosphate 5-phosphatase
deficiency OMIM
Joubert syndrome type 1 OMIM
INPPL1 6080 NM_001567.3 1-28 Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase deficiency OMIM
Opsismodysplasia OMIM
INS 6081 NM_000207.2 2-3 Insulin deficiency OMIM
Permanent neonatal diabetes mellitus (severe); maturity-onset diabetes of the young type 10 (milder) OMIM
Proinsulin cleavage deficiency OMIM Hyperproinsulinemia OMIM
INSR 6091 NM_000208.3 1-22 Insulin receptor dysregulation OMIM Familial hyperinsulinemic hypoglycemia type 5 OMIM
ISCA1 28660 NM_030940.3 4 1-4 ISCA1 deficiency OMIM
Multiple mitochondrial dysfunctions syndrome type 5 OMIM
ISCA2 19857 NM_194279.3 1-4 ISCA2 deficiency OMIM
Multiple mitochondrial dysfunctions syndrome type 4 OMIM
ISCU 29882 NM_213595.3 1-5 ISCU deficiency OMIM
Hereditary myopathy with lactic acidosis, Swedish type myopathy with exercise intolerance OMIM
ISPD 37276 NM_001101426.3 1-10 Methylerythritol 4-phosphate
cytidylyltransferase deficiency OMIM MDDGA7; MDDGC7 OMIM
ITPA 6176 NM_033453.3 1-8 Inosine triphosphatase deficiency OMIM Early infantile epileptic encephalopathy type 35 OMIM
ITPR1 6180 NM_002222.5 3-58 Inositol 1,4,5-triphosphate receptor type 1 deficiency OMIM
Gillespie syndrome; congenital non- progressive cerebellar ataxia;
spinocerebellar ataxia type 15 OMIM ITPR2 6181 NM_002223.3 1-57 Inositol 1,4,5-triphosphate receptor type
2 deficiency OMIM
IVD 6186 NM_002225.3 1-12 Isovaleryl-CoA dehydrogenase deficiency OMIM
Isovaleric acidemia OMIM
IYD 21071 NM_203395.2 1-5 Thyroid dyshormonogenesis 4 OMIM
JAG1 6188 NM_000214.3 1-26 Alagille syndrome 1 OMIM Tetralogy of Fallot OMIM JAGN1 26926 NM_032492.4 1-2 Jagunal 1 deficiency OMIM
Severe congenital neutropenia type 6 OMIM
KARS 6215 NM_001130089.1 2-15 Mitochondrial and cytoplasmic lysyl- tRNA synthetase deficiency OMIM KCNA1 6218 NM_000217.2 2 KCNA1 deficiency OMIM
KCNJ10 6256 NM_002241.4 2 KCNJ10 deficiency OMIM
Epilepsy, ataxia, sensorineural deafness, tubulopathy (EAST) syndrome; seizures, sensorineural deafness, ataxia, mental retardation, electrolyte imbalance (SeSAME) syndrome OMIM
KCNJ11 6257 NM_000525.3 1 ATP-sensitive potassium channel pore- forming subunit deficiency OMIM
Familial hyperinsulinemic hypoglycemia type 2 OMIM
ATP-sensitive potassium channel pore- forming subunit superactivity OMIM Developmental delay, epilepsy and neonatal diabetes (DEND), permanent or transient neonatal diabetes without neurologic features (severe); maturity- onset diabetes of the young type 13 (milder) OMIM
KCTD7 21957 NM_153033.4 1-4 Neuronal ceroid lipofuscinosis type 14 OMIM
Progressive myoclonic epilepsy type 3 OMIM
KHK 6315 NM_000221.2 1-8 Hepatic fructokinase deficiency OMIM Essential fructosuria OMIM
KLF11 11811 NM_003597.4 1-4 Kruppel-like factor 11 deficiency OMIM Maturity-onset diabetes of the young type 7 OMIM
KMO 6381 NM_003679.4 1-15 Kynurenine-3-hydroxylase deficiency OMIM
KYNU 6469 NM_003937.2 2-14 Kynureninase deficiency OMIM
Xanthurenic aciduria; vertebral, cardiac, renal, and limb defects syndrome type 2 OMIM
L2HGDH 20499 NM_024884.2 1-10 L-2-hydroxyglutarate dehydrogenase deficiency OMIM
L-2-hydroxyglutaric aciduria OMIM LAMA1 6481 NM_005559.3 1-63 Poretti-Boltshauser syndrome OMIM
LAMP2 6501 NM_002294.2 1-9 Lysosome-associated membrane protein 2 deficiency OMIM
Danon disease OMIM
LARGE 6511 NM_004737.6 3-16 ?-1,3-glucuronyltransferase/?-1,3- xylosytransferase deficiency OMIM
LARS2 17095 NM_015340.3 3-22 Mitochondrial leucyl-tRNA synthetase deficiency OMIM
Perrault syndrome type 4 OMIM
LBR 6518 NM_002296.3 2-14 Sterol C14 reductase deficiency OMIM Hydrops-ectopic calcification-moth- eaten (HEM) dysplasia, Greenberg dysplasia (recessive); Pelger-Huit anomaly (dominant) OMIM
LCAT 6522 NM_000229.1 1-6 Lecithin:cholesterol acyltransferase deficiency OMIM
Norum disease (severe); fish-eye disease (milder) OMIM
LCT 6530 NM_002299.3 1-17 Congenital lactase deficiency OMIM Congenital alactasia OMIM
LDHA 6535 NM_005566.3 2-8 Lactate dehydrogenase A deficiency OMIM
Glycogen storage disease+type 11 OMIM LDHB 6541 NM_002300.7 2-8 Lactate dehydrogenase B deficiency
OMIM
LDLR 6547 NM_000527.4 1-18 LDL receptor deficiency OMIM
Familial hypercholesterolemia OMIM LDLRAP1 18640 NM_015627.2 1-9 LDL receptor adaptor protein 1
deficiency OMIM
LFNG 6560 NM_001040167.1 1-8 Fucose-specific beta-1,3-N- acetylglucosaminyltransferase deficiency OMIM
Spondylocostal dysostosis type 3 OMIM LHX4 21734 NM_033343.3 1-6 Pituitary hormone deficiency, combined,
4 OMIM
LIAS 16429 NM_006859.3 1-11 Lipoic acid synthase deficiency OMIM Hyperglycinemia, lactic acidosis, and seizures OMIM
LIPA 6617 NM_000235.3 2-10 Lysosomal acid lipase deficiency OMIM Wolman disease (severe); cholesteryl ester storage disease (milder) OMIM
LIPC 6619 NM_000236.2 1-9 Hepatic lipase deficiency OMIM
LIPE 6621 NM_005357.3 1-10 Hormone-sensitive lipase deficiency OMIM
Familial partial lipodystrophy type 6 OMIM
LIPT1 29569 NM_145199.2 2 Lipoyltransferase 1 deficiency OMIM
LIPT2 37216 NM_001144869.2 1-2 Lipoyltransferase 2 deficiency OMIM Neonatal severe encephalopathy with lactic acidosis and brain abnormalities (NELABA) OMIM
LMBRD1 23038 NM_018368.3 1-16 Methylmalonic aciduria and homocystinuria, cblF type OMIM LMF1 14154 NM_022773.3 1-11 Lipase maturation factor 1 deficiency
OMIM
Combined lipase deficiency OMIM LONP1 9479 NM_001276480.1 3-18 LONP1 deficiency OMIM
Cerebral, ocular, dental, auricular, and skeletal+(CODAS) syndrome OMIM LPIN1 13345 NM_145693.3 2-20 Lipin 1 deficiency OMIM
LPIN2 14450 NM_014646.2 2-20 Lipin 2 deficiency OMIM Majeed syndrome OMIM
LPL 6677 NM_000237.2 1-10 Lipoprotein lipase deficiency OMIM Hyperlipoproteinemia type 1A OMIM LRAT 6685 NM_004744.4 2-3 Lecithin retinol acyltransferase
deficiency OMIM
Leber congenital amaurosis type 14 OMIM
LRPPRC 15714 NM_133259.3 1-38 LRPPRC deficiency OMIM
LYRM4 21365 NM_020408.5 1-3 ISD11 deficiency OMIM
