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