2/1/2021 Peroksisomale sykdommer v01 Avdeling for medisinsk genetikk Peroksisomale sykdommer Genpanel, versjon v01 * 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). 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 affisert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* ABCD1 61 NM_000033.3 7-10 1-10 X-linked adrenoleukodystrophy OMIM ABCD3 67 NM_002858.3 1-23 PMP70 deficiency OMIM ACBD5 23338 NM_145698.4 1-13 Acyl-CoA-binding domain-containing protein 5 deficiency OMIM ACOX1 119 NM_004035.6 1-14 Peroxisomal straight-chain acyl-CoA oxidase deficiency OMIM Pseudo-neonatal adrenoleukodystrophy OMIM ACOX2 120 NM_003500.3 2-15 Peroxisomal branched-chain acyl-CoA oxidase deficiency OMIM Congenital bile acid synthesis defect type 6 OMIM file:///data/Peroksisom_v01-web.html 1/4 2/1/2021 Peroksisomale sykdommer v01 Ekson Gen Gen affisert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* 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 AMACR 451 NM_014324.5 1-5 ?-methylacyl-CoA racemase deficiency OMIM Congenital bile acid synthesis defect type 4 OMIM CAT 1516 NM_001752.3 1-13 Catalase deficiency OMIM Acatalasemia 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 EHHADH 3247 NM_001966.3 1-7 L-bifunctional protein deficiency OMIM Fanconi renotubular syndrome type 3 OMIM FAR1 26222 NM_032228.5 12 2-12 Fatty Acyl-CoA reductase 1 (FAR1) deficiency OMIM GNPAT 4416 NM_014236.3 1-16 Glycerone 3-phosphate acyltransferase deficiency OMIM Rhizomelic chondrodysplasia punctata type 2 OMIM GRHPR 4570 NM_012203.1 1-9 Glyoxylate reductase/hydroxypyruvate reductase deficiency OMIM Primary hyperoxaluria type 2 OMIM HAO1 4809 NM_017545.2 1-8 Hydroxyacid oxidase 1 deficiency OMIM Glycolate oxidase deficiency; isolated glycolic aciduria OMIM HSD17B4 5213 NM_000414.3 1-24 D-bifunctional protein deficiency OMIM Pseudo-Zellweger syndrome (severe); Perrault syndrome type 1 (milder) OMIM file:///data/Peroksisom_v01-web.html 2/4 2/1/2021 Peroksisomale sykdommer v01 Ekson Gen Gen affisert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* MFF 24858 NM_020194.5 3-11 Mitochondrial fission factor deficiency OMIM Encephalopathy due to defective mitochondrial and peroxisomal fission type 2 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 PEX19 9713 NM_002857.3 1-8 Peroxin 19 deficiency OMIM Peroxisome biogenesis disorder 12A OMIM file:///data/Peroksisom_v01-web.html 3/4 2/1/2021 Peroksisomale sykdommer v01 Ekson Gen Gen affisert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* 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 PHYH 8940 NM_006214.3 1-9 Phytanoyl-CoA hydroxylase deficiency OMIM Classic Refsum disease OMIM SCP2 11490 NM_002979.4 1-16 Sterol carrier protein-2 deficiency OMIM Leukoencephalopathy with dystonia and motor neuropathy OMIM file:///data/Peroksisom_v01-web.html 4/4.