2/1/2021 Metabolske sykdommer v02

Avdeling for medisinsk genetikk

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.

Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 1/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 2/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 3/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 4/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 5/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 6/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 7/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 8/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 9/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 10/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 11/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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_001170535.2 1-16 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

file:///data/Metabolsk_v02-web.html 12/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 13/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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 OMIM

file:///data/Metabolsk_v02-web.html 14/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 15/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 16/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 17/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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_001008388.4 3 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 OMIM

file:///data/Metabolsk_v02-web.html 18/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 19/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 20/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 21/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 22/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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, 1-67 Cubilin deficiency OMIM 61-67 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

file:///data/Metabolsk_v02-web.html 23/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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 paraplegia type 5A OMIM

file:///data/Metabolsk_v02-web.html 24/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 25/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 26/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 27/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 28/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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 file:///data/Metabolsk_v02-web.html 29/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 30/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 31/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 32/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 33/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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 type 19 OMIM

file:///data/Metabolsk_v02-web.html 34/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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 file:///data/Metabolsk_v02-web.html 35/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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_001005741.2 2-12 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

file:///data/Metabolsk_v02-web.html 36/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 37/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 38/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 39/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 40/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 41/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 42/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 43/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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 OMIM

file:///data/Metabolsk_v02-web.html 44/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 45/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 46/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 47/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 48/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 49/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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 MDDGA6; MDDGB6 OMIM

file:///data/Metabolsk_v02-web.html 50/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

file:///data/Metabolsk_v02-web.html 51/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* 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

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MAGT1 28880 NM_032121.5 1-10 Oligosaccharyltransferase MAGT1 subunit deficiency OMIM MAGT1-CDG OMIM MAN1B1 6823 NM_016219.4 1-13 Alpha-1,2-mannosidase I deficiency OMIM MAN1B1-CDG OMIM MAN2B1 6826 NM_000528.3 1-24 Alpha-B-mannosidase deficiency OMIM Alpha-mannosidosis OMIM

MANBA 6831 NM_005908.3 1-17 Beta-A-mannosidase deficiency OMIM Beta-mannosidosis OMIM MAOA 6833 NM_000240.3 1-15 Monoamine oxidase A deficiency OMIM Brunner syndrome OMIM MARS2 25133 NM_138395.3 1 Mitochondrial methionyl-tRNA synthetase deficiency OMIM Autosomal recessive spastic ataxia type 3 OMIM MAT1A 6903 NM_000429.2 1-9 Methionine adenosyltransferase I/III deficiency OMIM Muddis disease OMIM Autosomal dominant hypermethioninemia OMIM MAT2A 6904 NM_005911.5 8-9 1-9 Methionine adenosyltransferase II deficiency OMIM

MBD5 20444 NM_018328.4 6-15 Mental retardation, autosomal dominant 1 OMIM MC2R 6930 NM_000529.2 2 ACTH receptor deficiency OMIM Melanocortin-2 receptor deficiency; hereditary glucocorticoid deficiency type 1 OMIM MCCC1 6936 NM_020166.4 1-19 3-Methylcrotonyl-CoA carboxylase+1 deficiency OMIM 3-methylcrotonylglycinuria type 1 OMIM

file:///data/Metabolsk_v02-web.html 53/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* MCCC2 6937 NM_022132.4 1-17 3-Methylcrotonyl-CoA carboxylase 2 deficiency OMIM 3-methylcrotonylglycinuria type 2 OMIM MCEE 16732 NM_032601.3 1-3 Methylmalonyl-CoA epimerase deficiency OMIM MCOLN1 13356 NM_020533.2 1-14 Mucolipin 1 deficiency OMIM Mucolipidosis type 4 OMIM MDH2 6971 NM_005918.3 1-9 Mitochondrial malate dehydrogenase deficiency OMIM Early infantile epileptic encephalopathy type 51+ OMIM Mitochondrial malate dehydrogenase deficiency, tumoral phenotype OMIM MECR 19691 NM_001024732.3 2-10 Mitochondrial enoyl-CoA reductase deficiency OMIM Mitochondrial enoyl-CoA reductase protein-associated neurodegeneration (MEPAN) OMIM MFF 24858 NM_020194.5 3-11 Mitochondrial fission factor deficiency OMIM Encephalopathy due to defective mitochondrial and peroxisomal fission type 2 OMIM MFN2 16877 NM_014874.3 3-19 Mitofusin 2 deficiency OMIM Axonal Charcot-Marie-Tooth type 2A2 OMIM MFSD2A 25897 NM_001136493.2 1-14 Docosahexanoic acid transporter deficiency OMIM Autosomal recessive primary microcephaly type 15 OMIM MFSD8 28486 NM_152778.2 2-13 Neuronal ceroid lipofuscinosis type 7 OMIM Macular dystrophy with central cone involvement (milder) OMIM MGAT2 7045 NM_002408.3 1 Beta-1,2-N- acetylglucosaminyltransferase II deficiency OMIM MGAT2-CDG OMIM

file:///data/Metabolsk_v02-web.html 54/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* MGME1 16205 NM_052865.3 2-5 Mitochondrial genome maintenance exonuclease 1+deficiency OMIM Mitochondrial DNA depletion syndrome type 11 OMIM MICU1 1530 NM_006077.3 2-12 Mitochondrial calcium uniporter deficiency OMIM Myopathy with extrapyramidal signs OMIM MIPEP 7104 NM_005932.3 1-3 1-19 Mitochondrial intermediate peptidase deficiency OMIM Combined oxidative phosphorylation deficiency+type 31 OMIM MLC1 17082 NM_015166.3 2-12 Megalencephalic leukoencephalopathy with subcortical cysts OMIM MLPH 29643 NM_024101.6 2-16 Griscelli syndrome, type 3 OMIM

MLYCD 7150 NM_012213.2 1-5 Malonyl-CoA decarboxylase deficiency OMIM Malonic aciduria OMIM MMAA 18871 NM_172250.2 2-7 Methylmalonic aciduria, cblA type OMIM

MMAB 19331 NM_052845.3 1-9 Methylmalonic aciduria, cblB type OMIM

MMACHC 24525 NM_015506.2 1-4 Methylmalonic aciduria and homocystinuria,+cblC+type OMIM Epi-cblC OMIM MMADHC 25221 NM_015702.2 2-8 cblD disease OMIM

MOCOS 18234 NM_017947.3 1-15 Molybdenum cofactor sulfurase deficiency OMIM Xanthinuria type 2 OMIM MOCS1 7190 NM_005943.5 1-9 Cyclic pyranopterin monophosphate synthase deficiency OMIM Molybdenum cofactor deficiency type A OMIM

file:///data/Metabolsk_v02-web.html 55/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* MOCS2 7193 NM_176806.3 1-3 Molybdopterin synthase deficiency OMIM Molybdenum cofactor deficiency type B OMIM MOGS 24862 NM_006302.3 1-4 Mannosyl-oligosaccharide ?-1,2- glucosidase deficiency OMIM MOGS-CDG OMIM MPC1 21606 NM_016098.3 1-5 Mitochondrial pyruvate carrier deficiency OMIM MPDU1 7207 NM_004870.3 1-7 MPDU1-CDG OMIM

MPI 7216 NM_002435.2 1-8 Phosphomannose isomerase deficiency OMIM MPI-CDG OMIM MPV17 7224 NM_002437.4 2-8 MPV17 deficiency OMIM Mitochondrial DNA depletion syndrome type 6 OMIM MRAP 1304 NM_178817.3 3-5 Melanocortin-2 receptor accessory protein deficiency OMIM Hereditary glucocorticoid deficiency type 2 OMIM MRPL12 10378 NM_002949.3 1-5 Mitochondrial ribosomal large subunit 12 deficiency OMIM

MRPL3 10379 NM_007208.3 10 1-10 Mitochondrial ribosomal large subunit 3 deficiency OMIM Combined oxidative phosphorylation+deficiency+type 9 OMIM MRPL44 16650 NM_022915.3 1-4 Mitochondrial ribosomal large subunit 44 deficiency OMIM Combined oxidative phosphorylation+deficiency+type 16 OMIM MRPS16 14048 NM_016065.3 1-3 Mitochondrial ribosomal small subunit 16 deficiency OMIM Combined oxidative phosphorylation+deficiency+type 2 OMIM file:///data/Metabolsk_v02-web.html 56/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* MRPS2 14495 NM_016034.4 1-4 Mitochondrial ribosomal small subunit 2 deficiency OMIM MRPS22 14508 NM_020191.3 1-8 Mitochondrial ribosomal small subunit 22 deficiency OMIM Combined oxidative phosphorylation+deficiency+type 5 OMIM MRPS23 14509 NM_016070.3 1-5 Mitochondrial ribosomal small subunit 23 deficiency OMIM

MRPS34 16618 NM_023936.1 1-3 Mitochondrial ribosomal small subunit 34 deficiency OMIM Combined oxidative phosphorylation+deficiency+type 32 OMIM MRPS7 14499 NM_015971.3 1-5 Mitochondrial ribosomal small subunit 7 deficiency OMIM MSMO1 10545 NM_006745.4 2-6 Sterol-C4-methyl oxidase deficiency OMIM Microcephaly, congenital cataract, and psoriasiform dermatitis OMIM MSTO1 29678 NM_018116.3 1-14 1-14 MSTO1 deficiency OMIM Mitochondrial myopathy and ataxia OMIM MTFMT 29666 NM_139242.3 1-9 Mitochondrial methionyl-tRNA formyltransferase deficiency OMIM Combined oxidative phosphorylation deficiency type 15 OMIM MTHFD1 7432 NM_005956.3 1-27 Methylenetetrahydrofolate dehydrogenase 1 deficiency OMIM Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) OMIM MTHFR 7436 NM_005957.4 2-12 5,10-methylenetetrahydrofolate reductase deficiency OMIM

file:///data/Metabolsk_v02-web.html 57/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* MTHFS 7437 NM_006441.3 1-3 5,10-methenyltetrahydrofolate synthetase deficiency OMIM 5-formyltetrahydrofolate cycloligase deficiency OMIM MTM1 7448 NM_000252.2 2-15 Myotubularin 1 deficiency OMIM X-linked myotubular myopathy OMIM MTMR2 7450 NM_016156.5 1-15 Myotubularin-related protein 2 deficiency OMIM Charcot-Marie-Tooth disease type 4B1 OMIM MTO1 19261 NM_012123.3 1-12 tRNA 5-carboxymethylaminomethyl transferase deficiency OMIM Combined oxidative phosphorylation deficiency type 10 OMIM MTPAP 25532 NM_018109.3 1-9 Mitochondrial poly(A) polymerase deficiency OMIM MTR 7468 NM_000254.2 1-33 Methionine synthase deficiency OMIM Homocystinuria-megaloblastic anemia,+cblG type OMIM MTRR 7473 NM_002454.2 2-15 Methionine synthase reductase deficiency OMIM Homocystinuria-megaloblastic anemia,+cblE type OMIM MTTP 7467 NM_000253.3 2-19 Microsomal triglyceride transfer protein deficiency OMIM Abetalipoproteinemia OMIM MUT 7526 NM_000255.3 2-13 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency OMIM MVD 7529 NM_002461.2 1-10 Mevalonate pyrophosphate decarboxylase deficiency OMIM Porokeratosis type 7 OMIM MVK 7530 NM_000431.3 2-11 Mevalonate kinase deficiency OMIM Mevalonic aciduria (severe); hyper-IgD syndrome (milder) OMIM Mevalonate kinase deficiency, porokeratosis phenotype OMIM Porokeratosis type 3 OMIM

file:///data/Metabolsk_v02-web.html 58/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* MYO5A 7602 NM_000259.3 1-41 Griscelli syndrome, type 1 OMIM

NAA10 18704 NM_003491.3 1-8 Ogden syndrome OMIM ?Microphthalmia, syndromic 1 OMIM NADK2 26404 NM_001287340.1 4-12 Mitochondrial NAD kinase 2 deficiency OMIM 2,4-dienoyl-CoA reductase deficiency with hyperlysinemia OMIM NAGA 7631 NM_000262.2 1-9 ?-N-acetylgalactosaminidase deficiency OMIM Schindler disease; Kanzaki disease (milder) OMIM NAGLU 7632 NM_000263.3 1-6 N-acetylglucosaminidase deficiency OMIM Mucopolysaccharidosis type 3B; Sanfilippo syndrome type B OMIM NAGS 17996 NM_153006.2 1-7 N-acetylglutamate synthase deficiency OMIM NALCN 19082 NM_052867.3 2-44 Congenital contractures of the limbs and face, hypotonia, and developmental delay OMIM Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 OMIM NANS 19237 NM_018946.3 1-6 N-acetylneuraminic acid-9-phosphate synthase deficiency OMIM NANS-CDG; spondyloepimetaphyseal dysplasia Camera-Genevieve type OMIM NARS2 26274 NM_024678.5 1-14 Mitochondrial asparaginyl-tRNA synthetase deficiency OMIM Combined oxidative phosphorylation deficiency type 24 OMIM NBAS 15625 NM_015909.3 1-52 Infantile liver failure syndrome 2 OMIM Short stature, optic nerve atrophy, and Pelger-Huet anomaly OMIM NDST1 7680 NM_001543.4 2-15 Mental retardation, autosomal recessive 46 OMIM

file:///data/Metabolsk_v02-web.html 59/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* NDUFA1 7683 NM_004541.3 1-3 NADH dehydrogenase ? subcomplex subunit 1 deficiency OMIM

NDUFA10 7684 NM_004544.3 1-10 NADH dehydrogenase ? subcomplex subunit 10 deficiency OMIM NDUFA11 20371 NM_175614.4 1-4 NDUFA11 deficiency OMIM

NDUFA12 23987 NM_018838.4 1-4 NADH dehydrogenase ? subcomplex subunit 12 deficiency OMIM

NDUFA13 17194 NM_015965.6 1-5 NDUFA13 deficiency OMIM

NDUFA2 7685 NM_002488.4 1-3 NADH dehydrogenase ? subcomplex subunit 2 deficiency OMIM NDUFA4 7687 NM_002489.3 1-4 NDUFA4 deficiency OMIM

NDUFA9 7693 NM_005002.4 1-11 NADH dehydrogenase ? subcomplex subunit 9 deficiency OMIM

NDUFAF1 18828 NM_016013.3 2-5 NADH dehydrogenase ? subcomplex assembly factor 1 deficiency OMIM NDUFAF2 28086 NM_174889.4 1-4 NADH dehydrogenase ? subcomplex assembly factor 2 deficiency OMIM NDUFAF3 29918 NM_199069.1 1-5 NADH dehydrogenase ? subcomplex assembly factor 3 deficiency OMIM

NDUFAF4 21034 NM_014165.3 3 1-3 NADH dehydrogenase ? subcomplex assembly factor 4 deficiency OMIM

NDUFAF5 15899 NM_024120.4 1-11 NADH dehydrogenase ? subcomplex assembly factor 5 deficiency OMIM NDUFAF6 28625 NM_152416.3 1-9 NADH dehydrogenase ? subcomplex assembly factor 6 deficiency OMIM NDUFB11 20372 NM_001135998.2 1-3 NADH dehydrogenase ? subcomplex subunit 11 deficiency OMIM Linear skin defects with multiple congenital anomalies type 3 OMIM

file:///data/Metabolsk_v02-web.html 60/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* NDUFB3 7698 NM_002491.2 2-3 NADH dehydrogenase ? subcomplex subunit 3 deficiency OMIM NDUFB8 7703 NM_001284368.1 2-5 NADH dehydrogenase ? subcomplex subunit 8 deficiency OMIM

NDUFB9 7704 NM_005005.2 1-4 NDUFB9 deficiency OMIM

NDUFS1 7707 NM_005006.6 2-19 NADH dehydrogenase iron-sulfur protein 1 deficiency OMIM NDUFS2 7708 NM_004550.4 2-15 NADH dehydrogenase iron-sulfur protein 2 deficiency OMIM

NDUFS3 7710 NM_004551.2 1-7 NADH dehydrogenase iron-sulfur protein 3 deficiency OMIM

NDUFS4 7711 NM_002495.3 1-5 NADH dehydrogenase iron-sulfur protein 4 deficiency OMIM NDUFS6 7713 NM_004553.4 1-4 NADH dehydrogenase iron-sulfur protein 6 deficiency OMIM NDUFS7 7714 NM_024407.4 1-8 NADH dehydrogenase iron-sulfur protein 7 deficiency OMIM

NDUFS8 7715 NM_002496.3 2-7 NADH dehydrogenase iron-sulfur protein 8 deficiency OMIM

NDUFV1 7716 NM_007103.3 1-10 NADH dehydrogenase flavoprotein 1 deficiency OMIM NDUFV2 7717 NM_021074.4 1-8 NADH dehydrogenase flavoprotein 2 deficiency OMIM NEU1 7758 NM_000434.3 1-6 ?-neuraminidase deficiency OMIM Sialidosis OMIM

NEUROD1 7762 NM_002500.4 2 Neurogenic differentiation factor 1 deficiency OMIM Maturity-onset diabetes of the young type 6 (dominant); permanent neonatal diabetes and neurologic anomalies (recessive) OMIM

file:///data/Metabolsk_v02-web.html 61/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* NFE2L2 7782 NM_006164.4 1-5 NRF2 superactivity OMIM Immunodeficiency, developmental delay, and hypohomocysteinemia (IEMDHH) OMIM NFS1 15910 NM_021100.4 1-13 NFS1 deficiency OMIM

NFU1 16287 NM_001002755.2 1-8 NFU1 deficiency OMIM Multiple mitochondrial dysfunctions syndrome type 1 OMIM NGLY1 17646 NM_018297.3 1-12 N-glycanase 1 deficiency OMIM NGLY1-CDDG OMIM NHLRC1 21576 NM_198586.2 1 Malin deficiency OMIM Progressive myoclonic epilepsy type 2B OMIM NKX2-1 11825 NM_001079668.2 1-3 Choreoathetosis, hypothyroidism, and neonatal respiratory distress OMIM NKX2-5 2488 NM_004387.3 1-2 Congenital heart malformations

NME1 7849 NM_000269.2 2-5 Mitochondrial RNA-processing endoribonuclease deficiency OMIM Cartilage-hair hypoplasia; metaphyseal dysplasia without hypotrichosis; anauxetic dysplasia type 1 OMIM NMNAT1 17877 NM_022787.3 2-5 Nicotinamide+mononucleotide+adenylyl transferase 1 deficiency OMIM Leber congenital amaurosis 9 OMIM NNT 7863 NM_012343.3 2-22 Nicotinamide nucleotide transhydrogenase+deficiency OMIM Glucocorticoid deficiency type 4 OMIM NOTCH2 7882 NM_024408.3 1-4 1-34 Alagille syndrome 2 OMIM Hajdu-Cheney syndrome OMIM

NPC1 7897 NM_000271.4 1-25 Niemann-Pick disease type C1 OMIM

NPC2 14537 NM_006432.4 1-5 Niemann-Pick disease type C2 OMIM

file:///data/Metabolsk_v02-web.html 62/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* NR1H4 7967 NM_005123.3 3-11 Bile acid receptor deficiency OMIM Progressive familial intrahepatic cholestasis type 5 OMIM NR3C1 7978 NM_001018077.1 2-9 Glucocorticoid receptor deficiency OMIM Glucocorticoid resistance OMIM NSDHL 13398 NM_015922.2 2-8 X-linked dominant sterol-4-alpha- carboxylate 3-dehydrogenase deficiency OMIM Congenital hemidysplasia with ichythyosiform erythroderma and limb defects (CHILD) syndrome OMIM X-linked recessive sterol-4-alpha- carboxylate 3-dehydrogenase deficiency OMIM CK syndrome OMIM NT5C3A 17820 NM_016489.12 2-10 Cytosolic pyrimidine 5i-nucleotidase deficiency OMIM Uridine 5i-monophosphate hydrolase 1 deficiency OMIM NT5E 8021 NM_002526.3 1-9 Ecto-5'-nucleotidase deficiency OMIM Arterial calcification due to deficiency of CD73 (ACDC) OMIM NUBPL 20278 NM_025152.2 1-11 NUBPL deficiency OMIM

NUS1 21042 NM_138459.4 5 1-5 Nogo-B receptor deficiency OMIM

OAS1 8086 NM_016816.3 1-6 2i,5i-oligoadenylate synthetase 1 deficiency OMIM Infantile-onset pulmonary alveolar proteinosis with hypogammaglobulinemia OMIM OAT 8091 NM_000274.3 2-10 Ornithine aminotransferase deficiency OMIM Gyrate atrophy of choroid and retina OMIM

file:///data/Metabolsk_v02-web.html 63/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* OCRL 8108 NM_000276.3 1-24 Phosphatidylinositol 4,5-bisphosphate- 5-phosphatase deficiency OMIM Lowe syndrome, Dent disease type 2 OMIM OGDH 8124 NM_002541.3 2-23 ?-ketoglutarate dehydrogenase deficiency OMIM OGT 8127 NM_181673.2 1-22 O-linked N- acetylglucosamine+transferase deficiency OMIM X-linked mental retardation type 106 OMIM OPA1 11957 NM_015560.2 1-28 OPA1 deficiency OMIM Optic atrophy type 1 (dominant); Behr syndrome (recessive) OMIM OPA3 8142 NM_025136.3 1-2 OPA3 deficiency OMIM Optic atrophy type 3 (dominant); 3- methylglutaconic aciduria type 3, Costeff syndrome (recessive) OMIM OPLAH 8149 NM_017570.4 2-28 5-Oxoprolinase deficiency OMIM

OTC 8512 NM_000531.5 1-10 Ornithine transcarbamylase deficiency OMIM

OXCT1 8527 NM_000436.3 1-17 Succinyl-CoA:3-oxoacid-CoA transferase+deficiency OMIM PAH 8582 NM_000277.2 1-13 Phenylalanine hydroxylase deficiency OMIM Phenylketonuria OMIM PAM16 29679 NM_016069.10 1-5 MAGMAS deficiency OMIM Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type OMIM PANK2 15894 NM_153638.3 1-7 Pantothenate kinase 2 deficiency OMIM Pantothenate kinase-associated neurodegeneration (PKAN); neurodegeneration with brain iron accumulation type 1 OMIM

file:///data/Metabolsk_v02-web.html 64/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* PAPSS2 8604 NM_001015880.1 1-13 Phosphoadenosine 5'-phosphosulfate synthetase 2 deficiency OMIM Spondyloepimetaphyseal dysplasia, Pakistani type OMIM PARK2 8607 NM_004562.2 1-12 Parkin deficiency OMIM Early-onset Parkinson disease type 2 OMIM PARK7 16369 NM_007262.4 2-7 Parkinson disease 7, autosomal recessive early-onset OMIM

PARS2 30563 NM_152268.3 2 ?Alpers syndrome PubMed

PAX4 8618 NM_006193.2 1-9 PAX4 deficiency OMIM Maturity-onset diabetes of the young type 9 OMIM PAX8 8622 NM_003466.3 2-12 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia OMIM PC 8636 NM_000920.3 3-22 Pyruvate carboxylase deficiency OMIM

PCBD1 8646 NM_000281.3 1-4 Pterin-4-?-carbinolamine dehydratase deficiency+ OMIM Primapterinuria; maturity-onset diabetes of the young (MODY) with hypomagnesemia and renal magnesium loss OMIM PCCA 8653 NM_000282.3 1-24 Propionic acidemia due to propionyl- CoA carboxylase ? subunit deficiency OMIM PCCB 8654 NM_000532.4 1-15 Propionic acidemia due to propionyl- CoA carboxylase ? subunit deficiency OMIM PCK1 8724 NM_002591.3 2-10 Cytosolic phosphoenolpyruvate carboxykinase deficiency OMIM PCK2 8725 NM_004563.3 1-10 Mitochondrial phosphoenolpyruvate carboxykinase deficiency OMIM PCLO 13406 NM_033026.5 1-25 ?Pontocerebellar hypoplasia, type 3 OMIM

file:///data/Metabolsk_v02-web.html 65/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* PCSK9 20001 NM_174936.3 1-12 PCSK9 superactivity OMIM Familial hypercholesterolemia type 3 OMIM PCSK9 deficiency OMIM PCYT1A 8754 NM_005017.3 3-10 Phosphocholine cytidylyltransferase 1? deficiency, retinoskeletal phenotype OMIM Phosphocholine cytidylyltransferase 1? deficiency, lipodystrophy phenotype OMIM PDE12 25386 NM_177966.6 1-3 Mitochondrial poly(A) exoribonuclease deficiency OMIM PDHA1 8806 NM_000284.3 1-11 Pyruvate dehydrogenase E1-? deficiency OMIM

PDHB 8808 NM_000925.3 1-10 Pyruvate dehydrogenase E1-? deficiency OMIM PDHX 21350 NM_003477.2 1-11 Pyruvate dehydrogenase E3-binding protein deficiency OMIM Pyruvate dehydrogenase component X deficiency OMIM PDK3 8811 NM_001142386.2 1-12 Pyruvate dehydrogenase kinase isoenzyme 3 superactivity OMIM PDP1 9279 NM_018444.3 2 Pyruvate dehydrogenase phosphatase deficiency OMIM PDSS1 17759 NM_014317.4 1-12 Prenyl diphosphate synthase subunit+1 deficiency OMIM Primary coenzyme Q10 deficiency type 2 OMIM PDSS2 23041 NM_020381.3 1-8 Prenyl diphosphate synthase subunit+2 deficiency OMIM Primary coenzyme Q10 deficiency type 3 OMIM PDX1 6107 NM_000209.3 1-2 Insulin promoter factor 1 deficiency OMIM Maturity-onset diabetes of the young type 4 (dominant); pancreatic agenesis (recessive) OMIM

file:///data/Metabolsk_v02-web.html 66/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* PDZK1IP1 16887 NM_005764.3 1-4 MAP17 deficiency OMIM

PEPD 8840 NM_000285.3 1-15 Prolidase deficiency OMIM

PET100 40038 NM_001171155.1 1-4 PET100 deficiency OMIM

PET112 8849 NM_004564.2 1-13 Mitochondrial glutamyl-tRNA(Gln) amidotransferase subunit B deficiency OMIM PEX1 8850 NM_000466.2 1-24 Peroxin 1 deficiency OMIM Peroxisome biogenesis disorder 1A (Zellweger syndrome); peroxisome biogenesis disorder 1B (neonatal adrenoleukodystrophy/infantile Refsum disease); Heimler syndrome type 1 OMIM PEX10 8851 NM_153818.1 1-6 Peroxin 10 deficiency OMIM Peroxisome biogenesis disorder 6A (severe); peroxisome biogenesis disorder 6B (milder) OMIM PEX11B 8853 NM_003846.2 1-4 Peroxin 11B deficiency OMIM Peroxisome biogenesis disorder 14B OMIM PEX12 8854 NM_000286.2 1-3 Peroxin 12 deficiency OMIM Peroxisome biogenesis disorder 3A (severe); peroxisome biogenesis disorder 3B (milder) OMIM PEX13 8855 NM_002618.3 1-4 Peroxin 13 deficiency OMIM Peroxisome biogenesis disorder 11A (severe); peroxisome biogenesis disorder 11B (milder) OMIM PEX14 8856 NM_004565.2 1-9 Peroxin 14 deficiency OMIM Peroxisome biogenesis disorder 13A OMIM PEX16 8857 NM_004813.2 1-11 Peroxin 16 deficiency OMIM Peroxisome biogenesis disorder 8A (severe); peroxisome biogenesis disorder 8B (milder) OMIM file:///data/Metabolsk_v02-web.html 67/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* PEX19 9713 NM_002857.3 1-8 Peroxin 19 deficiency OMIM Peroxisome biogenesis disorder 12A OMIM PEX2 9717 NM_000318.2 4 Peroxin 2 deficiency OMIM Peroxisome biogenesis disorder 5A (severe); peroxisome biogenesis disorder 5B (milder) OMIM PEX26 22965 NM_017929.5 2-6 Peroxin 26 deficiency OMIM Peroxisome biogenesis disorder 7A (severe); peroxisome biogenesis disorder 7B (milder) OMIM PEX3 8858 NM_003630.2 1-12 Peroxin 3 deficiency OMIM Peroxisome biogenesis disorder 10A (severe); peroxisome biogenesis disorder 10B (milder) OMIM PEX5 9719 NM_001131025.1 2-16 Peroxin 5 long isoform deficiency OMIM Rhizomelic chondrodysplasia punctata type 5 OMIM Peroxin 5 deficiency OMIM Peroxisome biogenesis disorder 2A (severe); peroxisome biogenesis disorder 2B (milder) OMIM PEX6 8859 NM_000287.3 1-17 Peroxin 6 deficiency OMIM Peroxisome biogenesis disorder 5A (severe); peroxisome biogenesis disorder 5B (intermediate); Heimler syndrome type 2 (milder) OMIM PEX7 8860 NM_000288.3 1-10 PTS2 receptor deficiency OMIM Rhizomelic chondrodysplasia punctata type 1 (severe); classic Refsum disease type 2 (milder) OMIM PFKM 8877 NM_000289.5 2-23 Muscle phosphofructokinase deficiency OMIM Glycogen storage disease type 7; Tarui disease OMIM PGAM2 8889 NM_000290.3 1-3 Muscle phosphoglycerate mutase deficiency OMIM Glycogen storage disease+type 10; DiMauro disease OMIM

file:///data/Metabolsk_v02-web.html 68/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* PGAP1 25712 NM_024989.3 1-27 PGAP1-CDG OMIM Autosomal recessive mental retardation type 42; GPI biosynthesis defect type 9 OMIM PGAP2 17893 NM_001256240.1 2-6 PGAP2-CDG OMIM Hyperphosphatasia with mental retardation type 3; GPI biosynthesis defect type 8 OMIM PGAP3 23719 NM_033419.4 1-8 PGAP3-CDG OMIM Hyperphosphatasia with mental retardation type 4; GPI biosynthesis defect type 10 OMIM PGK1 8896 NM_000291.3 1-11 Phosphoglycerate kinase deficiency OMIM

PGM1 8905 NM_002633.2 1-11 Phosphoglucomutase 1 deficiency OMIM PGM1-CDG; glycogen storage disease type 14 OMIM PGM3 8907 NM_001199917.1 2-14 N-Acetylglucosamine-phosphate mutase deficiency OMIM PGM3-CDG; immunodeficiency type 23 OMIM PHGDH 8923 NM_006623.3 1-12 3-phosphoglycerate dehydrogenase deficiency OMIM

PHKA1 8925 NM_002637.3 1-32 Muscle phosphorylase kinase ?1 subunit deficiency OMIM Glycogen storage disease type 9d OMIM PHKA2 8926 NM_000292.2 1-33 Hepatic phosphorylase kinase ?2 subunit deficiency OMIM Glycogen storage disease type 9a OMIM PHKB 8927 NM_000293.2 1-31 Phosphorylase kinase ? subunit deficiency OMIM Glycogen storage disease type 9b OMIM PHKG2 8931 NM_000294.2 2-10 Hepatic phosphorylase kinase ?2 subunit deficiency OMIM Glycogen storage disease type 9c OMIM PHYH 8940 NM_006214.3 1-9 Phytanoyl-CoA hydroxylase deficiency OMIM Classic Refsum disease OMIM

file:///data/Metabolsk_v02-web.html 69/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* PHYKPL 28249 NM_153373.3 1-12 5-phosphohydroxylysine phospholyase OMIM Phosphohydroxylysinuria OMIM PIGA 8957 NM_002641.3 4-6 2-6 PIGA-CDG OMIM Multiple congenital anomalies- hypotonia-seizures syndrome type 2; GPI biosynthesis defect type 4; early infantile epileptic encephalopathy type 20 OMIM PIGC 8960 NM_153747.1 2 2 PIGC-CDG OMIM GPI biosynthesis defect type 16; autosomal recessive mental retardation type 62 OMIM PIGG 25985 NM_017733.4 1-13 PIGG-CDG OMIM Autosomal recessive mental retardation type 53; GPI biosynthesis defect type 13 OMIM PIGH 8964 NM_004569.4 1-4 PIGH-CDG OMIM

PIGL 8966 NM_004278.3 1-7 PIGL-CDG OMIM CHIME syndrome; GPI biosynthesis defect type 5 OMIM PIGM 18858 NM_145167.2 1 PIGM-CDG OMIM GPI biosynthesis defect type 1 OMIM PIGN 8967 NM_176787.4 23 4-31 PIGN-CDG OMIM Multiple congenital anomalies- hypotonia-seizures syndrome type 1; GPI biosynthesis defect type 3 OMIM PIGO 23215 NM_032634.3 2-11 PIGO-CDG OMIM Hyperphosphatasia with mental retardation type 2; GPI biosynthesis defect type 6 OMIM PIGP 3046 NM_153682.2 2-5 PIGP-CDG OMIM

PIGQ 14135 NM_004204.3 2-11 PIGQ-CDG OMIM

file:///data/Metabolsk_v02-web.html 70/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* PIGT 14938 NM_015937.5 1-12 PIGT-CDG OMIM Multiple congenital anomalies- hypotonia-seizures syndrome type 3, GPI biosynthesis defect type 7 OMIM PIGV 26031 NM_017837.3 2-4 PIGV-CDG OMIM Hyperphosphatasia with mental retardation type 1; GPI biosynthesis defect type 2 OMIM PIGW 23213 NM_178517.4 3 PIGW-CDG OMIM Hyperphosphatasia with mental retardation type 5; GPI biosynthesis defect type 11 OMIM PIK3CA 8975 NM_006218.3 10-14 2-21 Catalytic phosphatidylinositol 3-kinase ? subunit superactivity OMIM

PIK3CD 8977 NM_005026.4 24 3-24 Catalytic phosphatidylinositol 3-kinase ? subunit superactivity OMIM Immunodeficiency type 14 OMIM PIK3R1 8979 NM_181523.2 2-16 Phosphatidylinositol 3-kinase regulatory subunit 1 deficiency OMIM SHORT syndrome, immunodeficiency type 36 OMIM PIK3R2 8980 NM_005027.3 2-16 Phosphatidylinositol 3-kinase regulatory subunit 2 superactivity OMIM Megalencephaly-polymicrogyria- polydactyly-hydrocephalus syndrome type 1 OMIM PIK3R5 30035 NM_001142633.2 2-19 Phosphatidylinositol 4,5-bisphosphate 3-kinase regulatory subunit deficiency OMIM PIKFYVE 23785 NM_015040.3 2-42 Phosphatidylinositol-3-phosphate 5- kinase deficiency OMIM Corneal fleck dystrophy OMIM PINK1 14581 NM_032409.2 1-8 PINK1 deficiency OMIM Early-onset Parkinson disease type 6 OMIM

file:///data/Metabolsk_v02-web.html 71/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* PIP5K1C 8996 NM_012398.2 1-18 Phosphatidylinositol 4-phosphate 5- kinase deficiency OMIM Lethal congenital contractural syndrome type 3 OMIM PITRM1 17663 NM_014889.3 1-27 Pitrilysin metallopeptidase 1+deficiency OMIM PKLR 9020 NM_000298.6 1-11 Pyruvate kinase deficiency OMIM

PLA2G6 9039 NM_003560.3 2-17 Phospholipase A2 group 6 deficiency OMIM Infantile neuroaxonal dystrophy; Seitelberger disease; neurodegeneration with brain iron accumulation+type 2B OMIM PLCB1 15917 NM_015192.3 1-32 Phosphatidylinositol 4,5-bisphosphate phospholipase C ?1 deficiency OMIM Early infantile epileptic encephalopathy type 12 OMIM PLCB3 9056 NM_000932.2 1-31 Phosphatidylinositol 4,5-bisphosphate phospholipase C ?3 deficiency OMIM PLCB4 9059 NM_000933.3 1-36 Phosphatidylinositol 4,5-bisphosphate phospholipase C ?4 deficiency OMIM Auriculocondylar syndrome type 2 OMIM PLCD1 9060 NM_001130964.1 1-15 Phosphatidylinositol 4,5-bisphosphate phospholipase C ?1 deficiency OMIM Nonsyndromic congenital nail disorder type 3; leukonychia totalis and/or partialis OMIM PLCE1 17175 NM_016341.3 2-32 Phosphatidylinositol 4,5-bisphosphate phospholipase C ?1 deficiency OMIM Nephrotic syndrome type 3 OMIM

file:///data/Metabolsk_v02-web.html 72/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* PLCG2 9066 NM_002661.4 2-33 Phosphatidylinositol 4,5-bisphosphate phospholipase C ?2 deficiency OMIM Autoinflammation and PLCG2- associated antibody deficiency and immune dysregulation (APLAID); familial cold autoinflammatory syndrome type 3 OMIM PLIN1 9076 NM_002666.4 2-9 Perilipin 1 deficiency OMIM Familial partial lipodystrophy type 4 OMIM PMM2 9115 NM_000303.2 1-8 Phosphomannomutase 2 deficiency OMIM PMM2-CDG OMIM PMPCA 18667 NM_015160.2 1-13 Mitochondrial processing peptidase alpha deficiency OMIM Autosomal recessive spinocerebellar ataxia type 2 OMIM PMPCB 9119 NM_004279.2 1-13 Mitochondrial processing peptidase ? deficiency OMIM

PMVK 9141 NM_006556.3 1-5 Phosphomevalonate kinase deficiency OMIM Porokeratosis type 1 OMIM PNP 7892 NM_000270.3 1-6 Purine nucleoside phosphorylase deficiency OMIM PNPLA1 21246 NM_001145717.1 1-8 Acylceramide transacylase deficiency OMIM Autosomal recessive congenital ichthyosis type 10 OMIM PNPLA2 30802 NM_020376.3 2-10 Adipose triglyceride lipase deficiency OMIM Neutral lipid storage disease with myopathy OMIM PNPLA4 24887 NM_004650.2 2-7 PNPLA4 deficiency OMIM

file:///data/Metabolsk_v02-web.html 73/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* PNPLA6 16268 NM_006702.4 3-35 PNPLA6 deficiency OMIM Autosomal recessive spastic paraplegia type 39; Oliver-McFarlane syndrome; Boucher-Neuhauser syndrome; Laurence-Moon syndrome OMIM PNPLA8 28900 NM_001256009.2 2-10 PNPLA8 deficiency OMIM Mitochondrial myopathy with lactic acidosis OMIM PNPO 30260 NM_018129.3 1-7 Pyridoxamine 5'-phosphate oxidase deficiency OMIM PNPT1 23166 NM_033109.4 28 1-28 Mitochondrial RNA import protein deficiency OMIM Combined oxidative phosphorylation deficiency type 13 OMIM POFUT1 14988 NM_015352.1 1-7 Protein O-fucosyltransferase deficiency OMIM Dowling-Degos disease type 2 OMIM POGLUT1 22954 NM_152305.2 1-11 Protein O-glucosyltransferase deficiency OMIM Dowling-Degos disease type 4 OMIM POLG 9179 NM_002693.2 2-23 Mitochondrial DNA polymerase g catalytic subunit deficiency OMIM Mitochondrial DNA depletion syndrome type 1; Alpers-Huttenlocher syndrome; mitochondrial recessive ataxia syndrome (MIRAS); arPEO type 1; adPEO type 1 OMIM POLG2 9180 NM_007215.3 1-8 Mitochondrial DNA polymerase g accessory subunit deficiency OMIM adPEO with mitochondrial DNA deletions type 4 OMIM POMGNT1 19139 NM_017739.3 2-22 Protein O-mannose ?-1,2-N- acetylglucosaminyltransferase deficiency OMIM MDDGA3; MDDGB3; MDDGC3; retinitis pigmentosa type 76 OMIM

file:///data/Metabolsk_v02-web.html 74/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* POMGNT2 25902 NM_032806.5 2 Protein O-mannose ?-1,4-N- acetylglucosaminyltransferase deficiency OMIM MDDGA8 OMIM POMK 26267 NM_032237.4 4-5 Protein O-mannose kinase deficiency OMIM MDDGA12; MDDGC12 OMIM POMT1 9202 NM_007171.3 2-20 Protein O-mannosyltransferase 1 deficiency OMIM MDDGA1 (severe); MDDGB1 (intermediate); MDDGC1 (milder) OMIM POMT2 19743 NM_013382.5 1-21 Protein O-mannosyltransferase 2 deficiency OMIM MDDGA2; MDDGB2; MDDGC2 OMIM POR 17652 NM_000941.2 2-16 Cytochrome P450 oxidoreductase deficiency OMIM

PORCN 17652 NM_203475.2 2-15 Porcupine palmitoyltransferase deficiency OMIM Goltz syndrome, focal dermal hypoplasia OMIM PPA2 28883 NM_176869.2 1-12 Mitochondrial inorganic pyrophosphatase 2 deficiency OMIM

PPCS 25686 NM_001077447.2 2-3 Phosphopantothenoylcysteine synthetase deficiency OMIM Autosomal recessive dilated cardiomyopathy OMIM PPM1K 25415 NM_152542.4 2-7 Branched-chain ketoacid dehydrogenase phosphatase deficiency OMIM PPOX 9280 NM_000309.4 2-13 Protoporphyrinogen oxidase deficiency OMIM Variegate porphyria OMIM PPP2R1A 9302 NM_014225.5 1-15 Mental retardation, autosomal dominant 36 OMIM PPP2R5D 9312 NM_006245.3 1-16 Mental retardation, autosomal dominant 35 OMIM

file:///data/Metabolsk_v02-web.html 75/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* PPT1 9325 NM_000310.3 1-9 Palmitoyl-protein thioesterase 1 deficiency OMIM Neuronal ceroid lipofuscinosis type 1; Santavuori-Haltia disease OMIM PRDX1 9352 NM_002574.3 2-6 Epi-cblC OMIM

PREPL 30228 NM_006036.4 1-14 ?Myasthenic syndrome, congenital, 22 OMIM

PRKAG2 9386 NM_016203.3 1-16 Cardiac phosphorylase kinase deficiency OMIM PRKCSH 9411 NM_002743.3 2-17 ?-1,3-glucosidase II subunit ? deficiency OMIM Polycystic liver disease type 1 OMIM PRODH 9453 NM_016335.4 2, 6-15 2-15 Proline dehydrogenase deficiency OMIM Proline oxidase deficiency; hyperprolinemia type 1 OMIM PRODH2 17325 NM_021232.1 1-11 Hydroxyproline dehydrogenase deficiency OMIM Hydroxyprolinemia OMIM PROSC 9457 NM_007198.3 1-8 Pyridoxal 5i-phosphate binding protein deficiency OMIM PROSC deficiency OMIM PRPS1 9462 NM_002764.3 7 1-7 Phosphoribosylpyrophosphate synthetase+superactivity OMIM Phosphoribosylpyrophosphate synthetase deficiency OMIM Arts syndrome (severe); X-linked Charcot-Marie-Tooth disease type 5 (intermediate); X-linked deafness type 1 (milder) OMIM PSAP 9498 NM_002778.3 1-14 Atypical Gaucher disease due to saposin C deficiency OMIM Atypical Krabbe disease due to saposin A deficiency OMIM Metachromatic leukodystrophy due to saposin B deficiency OMIM Combined saposin deficiency OMIM Prosaposin deficiency OMIM

file:///data/Metabolsk_v02-web.html 76/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* PSAT1 19129 NM_058179.3 9 1-9 Phosphoserine aminotransferase deficiency OMIM PSPH 9577 NM_004577.3 8 8,4-7 Phosphoserine+phosphatase+deficiency OMIM

PTDSS1 9587 NM_014754.2 1-13 Phosphatidylserine synthase 1 superactivity OMIM Lenz-Majewski syndrome OMIM PTEN 9588 NM_000314.6 9 1-9 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase deficiency OMIM PTEN hamartoma tumor syndrome OMIM PTPLA 9639 NM_014241.3 1-7 3-Hydroxyacyl-CoA dehydratase 1 deficiency OMIM

PTRH2 24265 NM_016077.4 2 Peptidyl-tRNA hydrolase 2 deficiency OMIM Infantile-onset multisystem neurologic, endocrine, and pancreatic disease OMIM PTS 9689 NM_000317.2 1-6 6-pyruvoyl-tetrahydropterin synthase deficiency OMIM

PURA 9701 NM_005859.4 1 Mental retardation, autosomal dominant 31 OMIM PUS1 15508 NM_025215.5 1-6 Pseudouridine synthase 1 deficiency OMIM Myopathy, lactic acidosis, and sideroblastic anemia type 1 OMIM PYCR1 9721 NM_006907.3 1-7 Pyrroline-5-carboxylate reductase 1 deficiency OMIM Autosomal recessive cutis laxa type 2B; autosomal recessive cutis laxa type 3B OMIM PYCR2 30262 NM_013328.3 1-7 Pyrroline-5-carboxylate reductase 2 deficiency OMIM Hypomyelinating leukodystrophy type 10 OMIM

file:///data/Metabolsk_v02-web.html 77/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* PYGL 9725 NM_002863.4 1-20 Liver glycogen phosphorylase deficiency OMIM Glycogen storage disease type 6; Hers disease OMIM PYGM 9726 NM_005609.3 1-20 Muscle glycogen phosphorylase deficiency OMIM Glycogen storage disease type 5; McArdle disease OMIM QARS 9751 NM_005051.2 1-24 Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy OMIM

QDPR 9752 NM_000320.2 1-7 Dihydropteridine reductase deficiency OMIM

QRSL1 21020 NM_018292.4 1-11 Mitochondrial glutamyl-tRNA(Gln) amidotransferase subunit A deficiency OMIM RAB27A 9766 NM_004580.4 2-6 Griscelli syndrome, type 2 OMIM

RAB3GAP1 17063 NM_012233.2 1-24 Warburg micro syndrome 1 OMIM

RAB7A 9788 NM_004637.5 2-6 RAB7 deficiency OMIM Charcot-Marie-Tooth disease type 2B OMIM RARS 9870 NM_002887.3 1-15 Leukodystrophy, hypomyelinating, 9 OMIM

RARS2 21406 NM_020320.4 1-20 Mitochondrial arginine-tRNA synthetase deficiency OMIM Pontocerebellar hypoplasia type 6 OMIM RBCK1 15864 NM_031229.3 1-12 HOIL1 deficiency OMIM Polyglucosan body myopathy type 1; HOIL deficiency OMIM RBP3 9921 NM_002900.2 1-4 Interphotoreceptor retinol-binding protein deficiency OMIM Retinitis pigmentosa type 66 OMIM

file:///data/Metabolsk_v02-web.html 78/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* RBP4 9922 NM_006744.3 2-6 Plasma retinol-binding protein deficiency OMIM Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (recessive); isolated microphthalmia and/or coloboma type 10 (dominant) OMIM RDH11 17964 NM_001252650.1 1-6 Retinol dehydrogenase 11 deficiency OMIM RDH12 19977 NM_152443.2 3-9 Retinol dehydrogenase 12 deficiency OMIM Leber congenital amaurosis type 13 OMIM RDH5 9940 NM_002905.3 2-5 Retinol dehydrogenase 5 deficiency OMIM Fundus albipunctatus OMIM RFT1 30220 NM_052859.3 1-13 Lipid-linked oligosaccharide flippase deficiency OMIM RFT1-CDG OMIM RFX6 21478 NM_173560.3 1-19 RFX6 deficiency OMIM Mitchell-Riley syndrome (recessive); maturity-onset diabetes of the young (dominant) OMIM RLBP1 10024 NM_000326.4 3-9 Cellular retinaldehyde-binding protein deficiency OMIM RMND1 21176 NM_017909.3 2 2-12 RMND1 deficiency OMIM Combined oxidative phosphorylation+deficiency+type 11 OMIM RNASEH1 18466 NM_002936.5 1-8 Mitochondrial ribonuclease H1 deficiency OMIM arPEO with mitochondrial DNA deletions type 2 OMIM RNASEH2A 18518 NM_006397.2 1-8 Ribonuclease H2 subunit A deficiency OMIM Aicardi-GoutiEres syndrome type 4 OMIM

file:///data/Metabolsk_v02-web.html 79/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* RNASEH2B 25671 NM_024570.3 1-11 Ribonuclease H2 subunit B deficiency OMIM Aicardi-GoutiEres syndrome type 2 OMIM RNASEH2C 24116 NM_032193.3 1-4 Ribonuclease H2 subunit C deficiency OMIM Aicardi-GoutiEres syndrome type 3 OMIM RNASET2 21686 NM_003730.4 1-9 Ribonuclease T2 deficiency OMIM Cystic leukoencephalopathy without megalencephaly OMIM RNF31 16031 NM_017999.4 1-21 HOIL1 interacting protein deficiency OMIM

RPE65 10294 NM_000329.2 1-14 Retinal isomerase deficiency OMIM Leber congenital amaurosis type 2 OMIM RPIA 10297 NM_144563.2 1-9 Ribose 5-phosphate isomerase+deficiency OMIM RRM2B 17296 NM_015713.4 1-9 Mitochondrial ribonucleotide reductase small subunit deficiency OMIM Mitochondrial DNA depletion syndrome+type 8; adPEO with mitochondrial DNA deletions type 5 OMIM RTN4IP1 18647 NM_032730.5 1-9 Nogo-interacting mitochondrial protein deficiency OMIM Optic atrophy type 10 OMIM SACS 10519 NM_014363.5 2-10 Sacsin deficiency OMIM Autosomal recessive spastic ataxia of Charlevoix-Saguenay OMIM SAMHD1 15925 NM_015474.3 1-16 SAMHD1 deficiency OMIM Aicardi-GoutiEres syndrome type 5; stenosis, aneurysm, moyamoya and stroke (SAMS association) OMIM SAR1B 10535 NM_001033503.2 3-8 Chylomicron retention disease OMIM Anderson disease OMIM

file:///data/Metabolsk_v02-web.html 80/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* SARDH 10536 NM_007101.3 2-21 Sarcosine dehydrogenase deficiency OMIM Sarcosinemia OMIM SARS2 17697 NM_017827.3 1-16 Mitochondrial seryl-tRNA synthetase deficiency OMIM Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis (HUPRA) OMIM SBF1 10542 NM_002972.3 1-41 Myotubularin-related protein 2 activator deficiency OMIM Charcot-Marie-Tooth disease type 4B3 OMIM SBF2 2135 NM_030962.3 1-40 Myotubularin-related protein 2 regulatory protein deficiency OMIM Charcot-Marie-Tooth disease type 4B2 OMIM SC5D 10547 NM_006918.4 2-5 Sterol ?5-desaturase deficiency OMIM Lathosterolosis OMIM

SCARB2 1665 NM_005506.3 1-12 Glucocerebrosidase receptor deficiency OMIM Progressive myoclonic epilepsy type 4; action myoclonus-renal failure syndrome OMIM SCO1 10603 NM_004589.3 1-6 SCO1 deficiency OMIM

SCO2 10604 NM_005138.2 2 SCO2 deficiency OMIM

SCP2 11490 NM_002979.4 1-16 Sterol carrier protein-2 deficiency OMIM Leukoencephalopathy with dystonia and motor neuropathy OMIM SDHA 10680 NM_004168.3 1-15 1-15 Succinate dehydrogenase subunit A deficiency OMIM Succinate dehydrogenase subunit A deficiency, tumoral phenotype OMIM Hereditary paraganglioma syndrome type 5 OMIM

file:///data/Metabolsk_v02-web.html 81/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* SDHAF1 33867 NM_001042631.2 1 Succinate dehydrogenase complex assembly factor 1 deficiency OMIM SDHAF2 26034 NM_017841.2 1-4 Succinate dehydrogenase complex assembly factor 2 deficiency, tumoral phenotype OMIM Hereditary paraganglioma syndrome type 2 OMIM SDHB 10681 NM_003000.2 1-8 Succinate dehydrogenase subunit B deficiency OMIM Succinate dehydrogenase subunit B deficiency, tumoral phenotype OMIM Hereditary paraganglioma syndrome type 4; Cowden syndrome type 2 OMIM SDHC 10682 NM_003001.3 1-6 Succinate dehydrogenase subunit C deficiency, tumoral phenotype OMIM Hereditary paraganglioma syndrome type 3 OMIM SDHD 10683 NM_003002.3 1-4 Succinate dehydrogenase subunit D deficiency OMIM Succinate dehydrogenase subunit D deficiency, tumoral phenotype OMIM Hereditary paraganglioma syndrome type 1; Cowden syndrome type 3 OMIM SDR9C7 29958 NM_148897.2 1-4 Short-chain dehydrogenase/reductase family 9C member 7 deficiency OMIM Autosomal recessive congenital ichthyosis type 13 OMIM SEC23A 10701 NM_006364.3 2-20 Craniolenticulosutural dysplasia OMIM

SEC23B 10702 NM_006363.6 2-20 Congenital dyserythropoietic anemia type 2 OMIM SEC23B-CDG OMIM SECISBP2 30972 NM_024077.4 1-17 Selenocysteine insertion sequence- binding protein 2+deficiency OMIM SELENBP1 10719 NM_003944.3 1-12 Methanethiol oxidase deficiency OMIM Extraoral halitosis OMIM

file:///data/Metabolsk_v02-web.html 82/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* SEPSECS 30605 NM_016955.3 1-11 O-phosphoseryl-tRNA(Sec) selenium transferase deficiency OMIM Selenocysteinyl-tRNA(Sec) synthase deficiency; progressive cerebellocerebral atrophy; pontocerebellar hypoplasia type 2D OMIM SERAC1 21061 NM_032861.3 2-17 SERAC1 deficiency OMIM 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh- like syndrome (MEGDEL) OMIM SFXN4 16088 NM_213649.1 1-14 Sideroflexin 4 deficiency OMIM Combined oxidative phosphorylation deficiency+type 18 OMIM SGPL1 10817 NM_003901.3 2-15 Sphingosine-1-phosphate lyase deficiency OMIM

SGSH 10818 NM_000199.4 1-8 Heparan N-sulfatase deficiency OMIM Mucopolysaccharidosis type 3A; Sanfilippo syndrome type A OMIM SHPK 1492 NM_013276.2 1-7 Sedoheptulose kinase deficiency OMIM

SI 10856 NM_001041.3 2-48 Congenital sucrase-isomaltase deficiency OMIM SLC10A1 10905 NM_003049.3 1-5 Sodium-taurocholate cotransporting polypeptide (NTCP) deficiency OMIM

SLC10A2 10906 NM_000452.2 1-6 Apical bile salt transporter deficiency OMIM Primary bile acid malabsorption OMIM SLC11A2 10908 NM_000617.2 2-16 Divalent metal transporter 1 deficiency OMIM Hypochromic microcytic anemia with iron overload type 1 OMIM SLC12A3 10912 NM_000339.2 1-26 Sodium-chloride cotransporter deficiency OMIM Gitelman syndrome OMIM

file:///data/Metabolsk_v02-web.html 83/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* SLC16A1 10922 NM_003051.3 2-5 Monocarboxylate transporter 1 deficiency OMIM Monocarboxylate transporter 1 superactivity OMIM Familial hyperinsulinemic hypoglycemia type 7 OMIM SLC16A2 10923 NM_006517.4 1-6 Allan-Herndon-Dudley syndrome OMIM

SLC17A5 10933 NM_012434.4 1-11 Sialin deficiency OMIM Infantile sialic acid storage disease (severe); Salla disease (milder) OMIM SLC18A2 10935 NM_003054.4 2-16 Vesicular monoamine transporter 2 deficiency OMIM SLC19A2 10938 NM_006996.2 1-6 Thiamine transporter 1 deficiency OMIM Thiamine-responsive megaloblastic anemia; Rogers syndrome; thiamine+metabolism+dysfunction syndrome type 1 OMIM SLC19A3 16266 NM_025243.3 2-6 Thiamine transporter 2 deficiency OMIM Biotin-thiamine-responsive basal ganglia disease; thiamine metabolism dysfunction syndrome type 2+ OMIM SLC1A1 10939 NM_004170.5 1-12 Dicarboxylic aminoaciduria OMIM

SLC1A2 10940 NM_004171.3 1-11 Astroglial glutamate aspartate transporter deficiency OMIM EAAT2 deficiency; early infantile epileptic encephalopathy type 41 OMIM SLC1A3 10941 NM_004172.4 2-10 Glutamate aspartate transporter deficiency OMIM EAAT1 deficiency; episodic ataxia type 6 OMIM SLC1A4 10942 NM_003038.4 1-8 ASCT1 transporter deficiency OMIM Spastic tetraplegia, thin corpus callosum, and progressive microcephaly OMIM

file:///data/Metabolsk_v02-web.html 84/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* SLC22A12 17989 NM_144585.3 1-10 Urate transporter 1 deficiency OMIM Hereditary renal hypouricemia type 1 OMIM SLC22A5 10969 NM_003060.3 1-10 Primary carnitine deficiency OMIM

SLC25A1 10979 NM_005984.4 1-9 Mitochondrial citrate carrier deficiency OMIM Combined D-2- and L-2-hydroxyglutaric aciduria OMIM SLC25A10 10980 NM_001270888.1 1-11 Mitochondrial dicarboxylate transporter deficiency OMIM SLC25A12 10982 NM_003705.4 9 1-18 Aspartate-glutamate carrier 1 deficiency OMIM Early infantile epileptic encephalopathy type 39 OMIM SLC25A13 10983 NM_014251.2 1-18 Citrin deficiency OMIM

SLC25A15 10985 NM_014252.3 2, 6-7 2-7 Mitochondrial ornithine transporter deficiency OMIM Hyperornithinemia-hyperammonemia- homocitrullinemia syndrome; ornithine translocase deficiency OMIM SLC25A19 14409 NM_021734.4 3-8 Mitochondrial thiamine pyrophosphate transporter deficiency OMIM Amish lethal microcephaly, thiamine metabolism dysfunction syndrome type 3 (severe); bilateral striatal necrosis and progressive polyneuropathy, thiamine metabolism dysfunction syndrome type 4 (milder) OMIM SLC25A20 1421 NM_000387.5 1-9 Carnitine-acylcarnitine translocase deficiency OMIM

SLC25A22 19954 NM_024698.5 2-10 Mitochondrial glutamate transporter deficiency OMIM Early infantile epileptic encephalopathy type 3 OMIM

file:///data/Metabolsk_v02-web.html 85/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* SLC25A24 20662 NM_013386.4 1-10 Mitochondrial+ATP- Mg/phosphate+transporter deficiency OMIM Gorlin-Chaudhry-Moss syndrome; Fontaine syndrome OMIM SLC25A26 20661 NM_173471.3 2-11 S-adenosylmethionine carrier deficiency OMIM Combined oxidative phosphorylation deficiency type 28 OMIM SLC25A3 10989 NM_005888.3 2-8 Mitochondrial phosphate carrier deficiency OMIM SLC25A32 29683 NM_030780.4 1-7 Mitochondrial flavin adenine dinucleotide transporter deficiency OMIM Riboflavin-responsive exercise intolerance OMIM SLC25A38 26054 NM_017875.4 1-7 Mitochondrial glycine transporter deficiency OMIM Congenital sideroblastic anemia type 2 OMIM SLC25A4 10990 NM_001151.3 1-4 Adenine nucleotide translocator deficiency OMIM Mitochondrial DNA depletion syndrome type 12 (cardiomyopathic type); adPEO with mitochondrial DNA deletions type 2 OMIM SLC25A42 28380 NM_178526.4 2-8 Mitochondrial coenzyme A transporter deficiency OMIM

SLC25A46 25198 NM_138773.3 1-8 UGO-1 like protein deficiency OMIM Hereditary motor and sensory neuropathy type 6B OMIM SLC26A1 10993 NM_213613.3 3-4 Oxalate transporter deficiency OMIM

SLC26A2 10994 NM_000112.3 2-3 Sulfate transporter deficiency OMIM Achondrogenesis type 1; atelosteogenesis type 2; diastrophic dysplasia; multiple epiphyseal dysplasia type 4 OMIM

file:///data/Metabolsk_v02-web.html 86/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* SLC26A4 8818 NM_000441.1 2-21 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct OMIM Pendred syndrome OMIM SLC27A4 10998 NM_005094.3 2-13 Fatty acid transport protein 4 deficiency OMIM Ichthyosis prematurity syndrome OMIM SLC27A5 10999 NM_012254.2 1-10 Bile acid CoA ligase deficiency OMIM

SLC29A1 11003 NM_001078177.1 3-14 Equilibrative nucleoside transporter 1 deficiency OMIM SLC29A3 23096 NM_018344.5 1-6 Equilibrative nucleoside transporter 3 deficiency OMIM H syndrome; familial Rosai-Dorman disease; Faisalabad histiocytosis OMIM SLC2A1 11005 NM_006516.3 1-10 Blood-brain barrier glucose transporter 1 deficiency OMIM GLUT1 deficiency OMIM SLC2A10 13444 NM_030777.3 1-5 L-dehydroascorbate transporter deficiency OMIM GLUT10 deficiency; arterial tortuosity syndrome OMIM SLC2A2 11006 NM_000340.1 1-11 Glucose transporter 2 deficiency OMIM Fanconi-Bickel syndrome OMIM

SLC2A9 13446 NM_020041.2 1-12 Urate voltage-driven efflux transporter 1 deficiency OMIM Hereditary renal hypouricemia type 2 OMIM SLC30A10 25355 NM_018713.2 1-4 Hypermanganesemia with dystonia type 1 OMIM

SLC30A2 11013 NM_001004434.2 1-8 Transient neonatal zinc deficiency OMIM

SLC30A9 1329 NM_006345.3 1-18 Birk-Landau-Perez syndrome OMIM

file:///data/Metabolsk_v02-web.html 87/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* SLC33A1 95 NM_004733.3 6 1-6 Acetyl-CoA transporter deficiency OMIM Huppke-Brendel syndrome; congenital cataracts, hearing loss, and neurodegeneration OMIM SLC35A1 11021 NM_006416.4 1-8 CMP-sialic acid transporter deficiency OMIM SLC35A1-CDG OMIM SLC35A2 11022 NM_001042498.2 1-4 UDP-galactose transporter deficiency OMIM SLC35A2-CDG; early infantile epileptic encephalopathy 22 OMIM SLC35A3 11023 NM_012243.2 2-8 UDP-N-acetylglucosamine transporter deficiency OMIM SLC35A3-CDG OMIM SLC35C1 20197 NM_018389.4 1-2 GDP-fucose transporter deficiency OMIM SLC35C1-CDG OMIM SLC35D1 20800 NM_015139.2 1-12 UDP-glucuronic acid/UDP-N- acetylgalactosamine dual transporter deficiency OMIM Schneckenbecken dysplasia; SLC35D1- CDG OMIM SLC36A2 18762 NM_181776.2 1-10 Hyperglycinuria OMIM Iminoglycinuria OMIM SLC37A4 4061 NM_001164277.1 3-11 Glucose-6-phosphate transporter deficiency OMIM Glycogen storage disease type 1b OMIM SLC38A8 32434 NM_001080442.2 1-10 Neuronal system A amino acid transporter deficiency OMIM Foveal hypoplasia type 2 with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM SLC39A13 20859 NM_152264.4 2-10 Spondylocheirodysplastic Ehlers-Danlos syndrome OMIM SLC39A14 20858 NM_001135154.2 2-9 SLC39A14 deficiency OMIM Hyperostosis cranialis interna (dominant); hypermanganesemia with dystonia type 2 (recessive) OMIM

file:///data/Metabolsk_v02-web.html 88/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* SLC39A4 17129 NM_130849.3 1-12 Acrodermatitis enteropathica OMIM

SLC39A8 20862 NM_001135147.1 2-11 SLC39A8 deficiency OMIM

SLC3A1 11025 NM_000341.3 1-10 Cystinuria type A OMIM

SLC40A1 10909 NM_014585.5 1-8 Ferroportin deficiency OMIM Hereditary hemochromatosis type 4 OMIM SLC45A1 17939 NM_001080397.2 1-9 Neuronal glucose transporter deficiency OMIM Intellectual developmental disorder with neuropsychiatric features OMIM SLC46A1 30521 NM_080669.5 1-6 Proton-coupled folate transporter deficiency OMIM Hereditary folate malabsorption OMIM SLC52A1 30225 NM_001104577.1 2-5 Riboflavin transporter 1 deficiency OMIM Transient riboflavin deficiency OMIM

SLC52A2 30224 NM_024531.4 2-5 Riboflavin transporter 3 deficiency OMIM Brown-Vialetto-van Laere syndrome type 2 OMIM SLC52A3 16187 NM_033409.3 2-5 Riboflavin transporter 2 deficiency OMIM Brown-Vialetto-van Laere syndrome type 1 OMIM SLC5A1 11036 NM_000343.3 1-15 Intestinal sodium-glucose cotransporter 1 deficiency OMIM Glucose-galactose malabsorption OMIM SLC5A2 11037 NM_003041.3 1-14 Renal sodium-glucose cotransporter 2 deficiency OMIM Familial renal glucosuria type 1 OMIM SLC5A5 11040 NM_000453.2 1-15 Thyroid dyshormonogenesis 1 OMIM

SLC5A6 11041 NM_021095.2 3-17 Sodium-dependent multivitamin transporter+deficiency OMIM SLC6A1 11042 NM_003042.3 3-16 GABA transporter deficiency OMIM Myoclonic-atonic epilepsy OMIM

file:///data/Metabolsk_v02-web.html 89/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* SLC6A17 31399 NM_001010898.3 2-12 Mental retardation, autosomal recessive 48 OMIM SLC6A19 27960 NM_001003841.2 1-12 Hartnup disorder OMIM

SLC6A20 30927 NM_020208.3 1-11 Iminoglycinuria OMIM

SLC6A3 11049 NM_001044.4 2-15 Dopamine transporter deficiency OMIM Infantile Parkinsonism-dystonia OMIM

SLC6A5 11051 NM_004211.4 1-16 Glycine transporter 2 deficiency OMIM Hereditary hyperekplexia type 3 OMIM SLC6A8 11055 NM_005629.3 1-13 1-13 Creatine transporter deficiency OMIM Cerebral creatine deficiency syndrome type 1 OMIM SLC6A9 11056 NM_001024845.2 2-14 Glycine transporter 1 deficiency OMIM Glycine encephalopathy with normal serum glycine OMIM SLC7A2 11060 NM_001008539.3 2-12 Cationic amino acid transporter 2 deficiency OMIM SLC7A5 11063 NM_003486.6 1 1-10 Large neutral amino acid transporter deficiency OMIM

SLC7A7 11065 NM_001126106.2 3-11 Lysinuric protein intolerance OMIM Dibasic aminoaciduria type 2 OMIM SLC7A9 11067 NM_014270.4 2-13 Cystinuria type B OMIM

SLC9A1 11071 NM_003047.4 1-12 ?Lichtenstein-Knorr syndrome OMIM

SLCO1B1 10959 NM_006446.4 2-15 Rotor syndrome OMIM

SLCO1B3 10961 NM_019844.3 3-16 Rotor syndrome OMIM

SLCO2A1 10955 NM_005630.2 1-14 Prostaglandin transporter deficiency OMIM Primary hypertrophic osteoarthropathy type 2 OMIM

file:///data/Metabolsk_v02-web.html 90/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* SMPD1 11120 NM_000543.4 1-6 Acid sphingomyelinase deficiency OMIM Niemann-Pick type A (severe); Niemann- Pick type B (milder) OMIM SMS 11123 NM_004595.4 1-11 Spermine synthase deficiency OMIM Snyder-Robinson syndrome OMIM

SNX14 14977 NM_020468.5 1-26 SNX14 deficiency OMIM Autosomal recessive spinocerebellar ataxia type 20 OMIM SORD 11184 NM_003104.5 1-9 1-9 Sorbitol dehydrogenase deficiency OMIM SPG11 11226 NM_025137.3 1-40 Spatacsin deficiency OMIM Autosomal recessive spastic paraplegia type 11; axonal Charcot-Marie-Tooth disease type 2X;+juvenile amyotrophic lateral sclerosis type 5 OMIM SPG7 11237 NM_003119.3 1-17 Paraplegin deficiency OMIM Spastic paraplegia type 7 OMIM

SPR 11526 NM_003124.4 1-3 Sepiapterin reductase deficiency OMIM

SPTLC1 11277 NM_006415.3 3 1-15 Serine palmitoyltransferase subunit 1 deficiency OMIM Hereditary sensory and autonomic neuropathy type 1A OMIM SPTLC2 11278 NM_004863.3 1-12 Serine palmitoyltransferase subunit 2 deficiency OMIM Hereditary sensory and autonomic neuropathy type 1C OMIM SRD5A3 25812 NM_024592.4 4-5 1-5 Polyprenol reductase deficiency OMIM SRD5A3-CDG OMIM

SSR3 11325 NM_007107.4 1-5 SSR3-CDG PubMed

SSR4 11326 NM_001204526.1 1-7 Translocon-associated protein ? subunit deficiency OMIM SSR4-CDG OMIM ST3GAL3 10866 NM_006279.4 2-12 GD1a/GT1b synthase deficiency OMIM ST3GAL3-CDG OMIM

file:///data/Metabolsk_v02-web.html 91/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* ST3GAL5 10872 NM_003896.3 1-7 GM3 synthase deficiency OMIM Amish infantile epilepsy syndrome; salt and pepper developmental regression syndrome OMIM STAP1 24133 NM_012108.3 1-9 STAP1 deficiency OMIM Familial hypercholesterolemia type 4 OMIM STAR 4688 NM_000349.2 1-7 Steroidogenic acute regulatory protein deficiency OMIM Lipoid adrenal hyperplasia OMIM STAT2 11363 NM_005419.3 2-24 STAT2 deficiency OMIM Immunodeficiency type 44 OMIM STRA6 30650 NM_022369.3 2-19 Vitamin A receptor deficiency OMIM Matthew-Wood syndrome; pulmonary hypoplasia-diaphragmatic hernia- anophthalmia-cardiac defect+(PDAC) syndrome OMIM STS 11425 NM_000351.5 1-10 Steroid sulfatase deficiency OMIM X-linked ichthyosis OMIM

STT3A 6172 NM_001278503.1 3-19 Oligosaccharyltransferase STT3A subunit deficiency OMIM STT3A-CDG OMIM STT3B 30611 NM_178862.2 1-16 Oligosaccharyltransferase STT3B subunit deficiency OMIM STX3 11438 NM_004177.4 1-10 Congenital cataract and intellectual disability PubMed STXBP5L 30757 NM_014980.2 2-28 Sensorimotor axonal neuropathy, optic atrophy, and cognitive deficit PubMed SUCLA2 11448 NM_003850.2 1-11 ATP-specific succinyl-CoA ligase ? subunit deficiency OMIM Mitochondrial DNA depletion syndrome type 5 OMIM SUCLG1 11449 NM_003849.3 1-9 GTP-specific succinyl-CoA ligase ? subunit deficiency OMIM Mitochondrial DNA depletion syndrome type 9 OMIM

file:///data/Metabolsk_v02-web.html 92/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* SUGCT 16001 NM_024728.2 1-15 Succinate-hydroxymethylglutarate-CoA transferase deficiency OMIM Glutaric acidemia type 3 OMIM SUMF1 20376 NM_182760.3 1-9 Formyl-glycine generating enzyme deficiency OMIM Multiple sulfatase deficiency OMIM SUOX 11460 NM_000456.2 4-6 Isolated sulfite oxidase deficiency OMIM Sulfocysteinuria OMIM

SURF1 11474 NM_003172.3 1-9 SURF1 deficiency OMIM

SYNJ1 11503 NM_003895.3 1-32 Synaptojanin 1 deficiency OMIM Early infantile epileptic encephalopathy type 53; early-onset Parkinson disease type 20 OMIM SZT2 29040 NM_015284.3 1-71 Epileptic encephalopathy, early infantile, 18 OMIM TACO1 24316 NM_016360.3 1-5 TACO1 deficiency OMIM

TALDO1 11559 NM_006755.1 1-8 Transaldolase deficiency OMIM

TANGO2 25439 NM_001283186.2 2-7 TANGO2 deficiency OMIM Metabolic encephalomyopathic crises associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN)+ OMIM TARS2 30740 NM_025150.4 1-18 Mitochondrial threonyl-tRNA synthetase deficiency OMIM TAT 11573 NM_000353.2 2-12 Tyrosine aminotransferase deficiency OMIM Tyrosinemia type 2; Richner-Hanhart syndrome OMIM TAZ 24042 NM_000116.4 1-11 Tafazin deficiency OMIM Barth syndrome OMIM

file:///data/Metabolsk_v02-web.html 93/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* TBK1 11584 NM_013254.3 2-21 TBK1 deficiency OMIM Frontotemporal dementia and/or amyotrophic lateral sclerosis type 4 OMIM TBXAS1 11609 NM_001061.4 1-13 Thromboxane synthase deficiency OMIM Ghosal hematodiaphyseal syndrome OMIM TCN1 11652 NM_001062.3 1-9 Haptocorrin deficiency OMIM Transcobalamin I deficiency OMIM TCN2 11653 NM_000355.3 1-9 Transcobalamin II deficiency OMIM

TDO2 11708 NM_005651.3 1-12 Tryptophan 2,3-dioxygenase deficiency OMIM Hypertryptophanemia OMIM TECPR2 19957 NM_014844.4 2-20 TECPR2 deficiency OMIM Autosomal recessive spastic paraplegia type 49 OMIM TECR 4551 NM_138501.5 1-13 Trans-2-enoyl-CoA reductase deficiency OMIM TF 3541 NM_001063.3 1-17 Hereditary transferrin deficiency OMIM Atransferrinemia OMIM TFAM 11741 NM_003201.2 7 1-7 Mitochondrial transcription factor A deficiency OMIM TFR2 11762 NM_003227.3 1-18 Transferrin receptor 2 deficiency OMIM Hereditary hemochromatosis type 3 OMIM TFRC 11763 NM_003234.3 2-19 Transferrin receptor deficiency OMIM Immunodeficiency type 46 OMIM

TG 11764 NM_003235.4 1-48 Thyroid dyshormonogenesis 3 OMIM

TH 11782 NM_199292.2 1-14 Tyrosine hydroxylase deficiency OMIM

THAP11 23194 NM_020457.2 1 Methylmalonic aciduria and homocystinuria due to Ronin deficiency OMIM

file:///data/Metabolsk_v02-web.html 94/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* TIMM50 23656 NM_001001563.3 1-11 TIMM50 deficiency OMIM 3-methylglutaconic aciduria type 9 OMIM TIMM8A 11817 NM_004085.3 2 1-2 TIMM8A deficiency OMIM Mohr-Tranebjaerg syndrome OMIM TIMMDC1 1321 NM_016589.3 1-7 TIMMDC1 deficiency OMIM

TJP2 11828 NM_004817.4 1-23 Cholestasis, progressive familial intrahepatic 4 OMIM Hypercholanemia, familial OMIM TK2 11831 NM_004614.4 1-10 Mitochondrial thymidine kinase deficiency OMIM Mitochondrial DNA depletion syndrome+type 2 OMIM TKT 11834 NM_001135055.2 1-14 Transketolase deficiency OMIM Short stature, developmental delay, and congenital heart defects OMIM TMEM126A 25382 NM_032273.3 2-5 Transmembrane protein 126A deficiency OMIM Optic atrophy type 7 OMIM TMEM126B 30883 NM_018480.5 1-5 Transmembrane protein 126B deficiency OMIM TMEM165 30760 NM_018475.4 1-6 Transmembrane protein 165 deficiency OMIM TMEM165-CDG OMIM TMEM173 27962 NM_198282.3 3-8 STING superactivity OMIM STING-associated vasculopathy with onset in infancy (SAVI) OMIM TMEM199 18085 NM_152464.2 1-6 Transmembrane protein 199 deficiency OMIM TMEM199-CDG OMIM TMEM240 25186 NM_001114748.1 1-4 Spinocerebellar ataxia 21 OMIM

TMEM5 13530 NM_014254.2 1-6 Ribitol ?-1,4-xylosyltransferase deficiency OMIM MDDGA10 OMIM

file:///data/Metabolsk_v02-web.html 95/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* TMEM70 26050 NM_017866.5 1-3 Transmembrane protein 70 deficiency OMIM

TMLHE 18308 NM_018196.3 7-8 2-8 Epsilon-N-trimethyllysine hydroxylase deficiency OMIM TMPRSS6 16517 NM_153609.3 1-18 Matriptrase 2 deficiency OMIM Iron-refractory iron deficiency anemia OMIM TPI1 12009 NM_000365.5 1-7 Triose phosphate isomerase deficiency OMIM TPK1 17358 NM_022445.3 2-9 Thiamine pyrophosphokinase+deficiency OMIM Thiamine metabolism dysfunction syndrome type 5 OMIM TPMT 12014 NM_000367.4 9 2-9 Thiopurine methyltransferase deficiency OMIM TPO 12015 NM_000547.5 2-17 Thyroid dyshormonogenesis 2A OMIM Thrombocythemia 1 OMIM TPP1 2073 NM_000391.3 1-13 Tripeptidyl-peptidase 1 deficiency OMIM Neuronal ceroid lipofuscinosis type 2, Jansky-Bielchowsky disease (severe), autosomal recessive spinocerebellar ataxia type 7 (milder) OMIM TRAK1 29947 NM_001042646.2 1-16 Trafficking kinesin-binding protein 1 deficiency OMIM TRAPPC11 25751 NM_021942.5 2-30 TRAPPC11-CDG OMIM Limb-girdle muscular dystrophy type 2S OMIM TREH 12266 NM_007180.2 11-15 1-15 Trehalase deficiency OMIM

TREX1 12269 NM_033629.5 2 3' repair exonuclease 1 deficiency OMIM Aicardi-Goutieres syndrome type 1; familial chilblain lupus; retinal vasculopathy with cerebral leukodystrophy OMIM TRIP11 12305 NM_004239.4 21 1-21 Achondrogenesis type 1A OMIM

file:///data/Metabolsk_v02-web.html 96/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* TRIT1 20286 NM_017646.5 1-11 tRNA isopentenyl transferase deficiency OMIM TRMT10C 26022 NM_017819.3 2 Ribonuclease P 5' tRNA processing enzyme deficiency OMIM Combined oxidative phosphorylation+deficiency+30 OMIM TRMT5 23141 NM_020810.3 1-5 tRNA methyltransferase 5 deficiency OMIM Combined oxidative phosphorylation deficiency type 26 OMIM TRMU 25481 NM_018006.4 1-11 tRNA 5-methylaminomethyl-2- thiouridylate-methyltransferase deficiency OMIM Transient infantile liver failure OMIM TRNT1 17341 NM_182916.2 2-8 CCA-adding tRNA-nucleotidyltransferase deficiency OMIM Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (severe); retinitis pigmentosa and erythrocytic microcytosis (milder) OMIM TRPM6 17995 NM_017662.4 1-39 Epithelial magnesium transporter deficiency OMIM Hypomagnesemia with secondary hypocalcemia OMIM TSFM 12367 NM_001172696.1 1-7 Mitochondrial elongation factor Ts deficiency OMIM Combined oxidative phosphorylation+deficiency+type 3 OMIM TSHR 12373 NM_000369.2 1-10 Hyperthyroidism, familial gestational OMIM Hyperthyroidism, nonautoimmune OMIM Hypothyroidism, congenital, nongoitrous, 1 OMIM TTC19 26006 NM_017775.3 1-10 TTC19 deficiency OMIM

file:///data/Metabolsk_v02-web.html 97/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* TTPA 12404 NM_000370.3 1-5 ?-tocopherol transfer protein deficiency OMIM Ataxia with isolated vitamin E deficiency OMIM TUFM 12420 NM_003321.4 1-10 Mitochondrial elongation factor Tu deficiency OMIM Combined oxidative phosphorylation+deficiency+type 4 OMIM TUSC3 30242 NM_006765.3 1-10 Oligosaccharyltransferase TUSC3 subunit deficiency OMIM TUSC3-CDG OMIM TXN2 17772 NM_012473.3 2-4 Mitochondrial thioredoxin 2 deficiency OMIM TXNRD2 18155 NM_006440.4 1-17 Mitochondrial thioredoxin reductase 2 deficiency OMIM TYMP 3148 NM_001953.4 2-10 Thymidine phosphorylase deficiency OMIM Mitochondrial neurogastrointestinal encephalopathy syndrome OMIM TYR 12442 NM_000372.4 4-5 1-5 Tyrosinase deficiency OMIM Oculocutaneous albinism type 1 OMIM UBIAD1 30791 NM_013319.2 1-2 Menaquinone-4 synthetase deficiency OMIM Schnyder corneal dystrophy OMIM UBQLN2 12509 NM_013444.3 1 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia OMIM Hereditary spastic paraplegia PubMed UCP2 12518 NM_003355.2 3-8 Uncoupling protein 2 deficiency OMIM

UGCG 12524 NM_003358.2 1-9 UDP-glucose ceramide glucosyltransferase deficiency OMIM UGT1A1 12530 NM_000463.2 1-5 UDP-glucuronosyltransferase A1 deficiency OMIM Crigler-Najjar syndrome (severe); Gilbert syndrome (milder) OMIM

file:///data/Metabolsk_v02-web.html 98/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* UMPS 12563 NM_000373.3 1-6 Uridine monophosphate synthase deficiency OMIM Hereditary orotic aciduria OMIM UNG 12572 NM_080911.2 1-7 Uracil-DNA glycosylase deficiency OMIM Hyper-IgM syndrome type 5 OMIM UPB1 16297 NM_016327.2 1-10 Beta-ureidopropionase deficiency OMIM ?-alanine synthase deficiency OMIM

UQCC2 21237 NM_032340.3 1-4 UQCC2 deficiency OMIM

UQCRB 12582 NM_006294.4 3-4 1-4 UQCRB deficiency OMIM

UQCRC2 12586 NM_003366.3 1-14 UQCRC2 deficiency OMIM

UQCRQ 29594 NM_014402.4 2-3 UQCRQ deficiency OMIM

UROC1 26444 NM_144639.2 1-20 Urocanase deficiency OMIM

UROD 12591 NM_000374.4 1-10 Uroporphyrinogen decarboxylase deficiency OMIM Porphyria cutanea tarda type 2 (dominant); hepatoerythropoietic porphyria (recessive) OMIM UROS 12592 NM_000375.2 2-10 Uroporphyrinogen III synthase deficiency OMIM Congenital erythropoietic porphyria; Gunther disease OMIM USMG5 30889 NM_001206426.1 2-3 DAPIT deficiency OMIM

USP9X 12632 NM_001039590.2 2-45 USP9X deficiency OMIM X-linked mental retardation type 99 OMIM VARS2 21642 NM_001167734.1 1-30 Mitochondrial valyl-tRNA synthetase deficiency OMIM Combined oxidative phosphorylation deficiency type 20 OMIM

file:///data/Metabolsk_v02-web.html 99/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* VCP 12666 NM_007126.4 1-17 Valosin-containing protein superactivity OMIM Inclusion body myopathy with early- onset Paget disease and frontotemporal dementia type 1 OMIM VDR 12679 NM_001017535.1 4-11 Vitamin D receptor deficiency OMIM Vitamin D-dependent rickets type 2A OMIM VKORC1 23663 NM_024006.5 1-3 Vitamin K epoxide reductase deficiency OMIM Combined deficiency of vitamin K- dependent coagulation factors type 2 OMIM VPS13B 2183 NM_017890.4 2-62 Cohen syndrome OMIM

VPS33A 18179 NM_022916.5 1-13 Mucopolysaccharidosis-plus syndrome OMIM VPS53 25608 NM_001128159.2 1-22 Pontocerebellar hypoplasia, type 2E OMIM WARS2 12730 NM_201263.2 1-6 Mitochondrial tryptophanyl-tRNA synthetase deficiency OMIM Mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures+ OMIM WDR45 28912 NM_007075.3 3-12 WDR45 deficiency OMIM Neurodegeneration with brain iron accumulation type 5; static encephalopathy of childhood with neurodegeneration in adulthood (SENDA); ?-propeller protein-associated neurodegeneration+(BPAN) OMIM WFS1 12762 NM_006005.3 2-8 Deafness, autosomal dominant 6/14/38 OMIM Wolfram syndrome OMIM Wolfram-like syndrome, autosomal dominant OMIM

file:///data/Metabolsk_v02-web.html 100/101 2/1/2021 Metabolske sykdommer v02 Ekson Gen Gen (HGNC affisert (HGNC Transkript Ekson** Fenotype symbol) av ID) segdup* WWOX 12799 NM_016373.3 1-9 Epileptic encephalopathy, early infantile, 28 OMIM Spinocerebellar ataxia, autosomal recessive 12 OMIM XDH 12805 NM_000379.3 1-36 Xanthine oxidase deficiency OMIM Xanthinuria type 1 OMIM

XPNPEP3 28052 NM_022098.3 1-10 X-prolyl aminopeptidase 3 deficiency OMIM Nephronophthisis-like nephropathy type 1 OMIM XPR1 12827 NM_004736.3 1-15 Basal ganglia calcification, idiopathic, 6 OMIM

XYLT1 15516 NM_022166.3 1-12 Xylosyltransferase 1 deficiency OMIM Desbuquois dysplasia type 2 OMIM XYLT2 15517 NM_022167.3 1-11 Xylosyltransferase 2 deficiency OMIM Spondyloocular syndrome OMIM YARS2 24249 NM_001040436.2 1-5 Mitochondrial tyrosyl-tRNA synthetase deficiency OMIM Myopathy, lactic acidosis, and sideroblastic anemia type 2 OMIM YME1L1 12843 NM_014263.3 6-8 1-19 YME1L1 deficiency OMIM

ZBTB42 32550 NM_001137601.2 1 Lethal congenital contracture syndrome 6 OMIM ZDHHC15 20342 NM_001146256.1 1-10 ZDHHC15 palmitoyltransferase deficiency OMIM ZDHHC9 18475 NM_016032.3 3-11 ZDHHC9 palmitoyltransferase deficiency OMIM X-linked mental retardation, Raymond type OMIM ZFYVE26 20761 NM_015346.3 2-42 Spastizin deficiency OMIM Autosomal recessive spastic paraplegia type 15; Kjellin syndrome OMIM ZNF143 12928 NM_003442.5 2-16 Methylmalonic aciduria and homocystinuria due to ZNF143 deficiency OMIM

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