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Utviklingsavvik V02 2/1/2021 Utviklingsavvik v02 Avdeling for medisinsk genetikk Utviklingsavvik 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: ACTB, ACTG1, ASNS, ATAD3A, CA5A, CFC1, CLCNKB, CYCS, DDX11, GBA, GJA1, MSTO1, PIGC, RBM8A, RPL15, SBDS, SDHA, SHOX, SLC6A8 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* AAAS 13666 NM_015665.6 1-16 Achalasia-addisonianism-alacrimia syndrome, 231550 AARS 20 NM_001605.2 2-21 Epileptic encephalopathy, early infantile, 29 616339 AARS2 21022 NM_020745.4 1-22 Combined oxidative phosphorylation deficiency 8, 614096 AASS 17366 NM_005763.4 2-24 Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism) ABAT 23 NM_020686.6 2-16 GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate) file:///data/UtAv_v02-web.html 1/230 2/1/2021 Utviklingsavvik v02 Ekson Gen Gen affisert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* ABCA1 29 NM_005502.4 2-50 Tangier disease (Disorders of high density lipoprotein metabolism) ABCB11 42 NM_003742.4 2-28 Cholestasis, benign recurrent intrahepatic, 2, 605479 Cholestasis, progressive familial intrahepatic 2, 601847 ABCB4 45 NM_000443.4 2-28 Cholestasis, intrahepatic, of pregnancy, 3, 614972 Cholestasis, progressive familial intrahepatic 3, 602347 ABCB7 48 NM_004299.6 1-16 Anemia, sideroblastic, with ataxia, 301310 ABCC2 53 NM_000392.5 1-32 Dubin-Johnson syndrome, 237500 ABCC6 57 NM_001171.5 1-9 1-31 Pseudoxanthoma elasticum, 264800 Pseudoxanthoma elasticum, forme fruste, 177850 Arterial calcification, generalized, of infancy, 2, 614473 ABCC9 60 NM_005691.3 1-38 Hypertrichotic osteochondrodysplasia 239850 Cardiomyopathy, dilated, 10, 608569 ABCD1 61 NM_000033.4 7-10 1-10 X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation) ABCD4 68 NM_005050.4 1-19 Methylmalonic aciduria and homocystinuria, cblJ type, 614857 ABCG5 13886 NM_022436.3 1-13 Sitosterolaemia (Inherited hypercholesterolaemias) ABCG8 13887 NM_022437.3 1-13 Sitosterolaemia (Inherited hypercholesterolaemias) ABHD12 15868 NM_001042472.3 1-13 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) file:///data/UtAv_v02-web.html 2/230 2/1/2021 Utviklingsavvik v02 Ekson Gen Gen affisert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* ABHD5 21396 NM_016006.6 1-7 Neutral lipid storage disease (Disorders of lipolysis) Chanarin-Dorfman syndrome, 275630 ABL1 76 NM_005157.6 1-11 Congenital heart defects and skeletal malformations syndrome, 617602 ACAD8 87 NM_014384.2 1-11 Isobutyric aciduria (Organic acidurias) ACAD9 21497 NM_014049.5 1-18 Mitochondrial complex I deficiency due to ACAD9 deficiency 611126 ACADM 89 NM_000016.5 1-12 Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) ACADS 90 NM_000017.4 1-10 Acyl-CoA dehydrogenase, short-chain, deficiency of 201470 ACADSB 91 NM_001609.4 1-11 2-Methylbutyric aciduria (Organic acidurias) ACADVL 92 NM_000018.4 1-20 Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) ACAN 319 NM_013227.3 2-18 Spondyloepiphyseal dysplasia, Kimberley type 608361 Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800 ACAT1 93 NM_000019.4 1-12 Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism) ACN9 21752 NM_020186.3 1-2 No OMIM phenotype ACO2 118 NM_001098.3 1-18 Infantile cerebellar-retinal degeneration, 614559 ACOX1 119 NM_004035.7 1-14 Peroxisomal acyl-CoA oxidase 1 deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) file:///data/UtAv_v02-web.html 3/230 2/1/2021 Utviklingsavvik v02 Ekson Gen Gen affisert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* ACP5 124 NM_001111035.3 4-7 Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia ACSF3 27288 NM_174917.5 3-11 Combined methylmalonic and malonic aciduria (Organic acidurias) ACSL4 3571 NM_004458.3 3-16 Mental retardation, X-linked 63, 300387 ACTA1 129 NM_001100.4 2-7 Nemaline myopathy 3, 161800 ACTA2 130 NM_001613.4 2-9 Aortic aneurysm, familial thoracic 6, 611788 Moyamoya disease 5, 614042 ACTB 132 NM_001101.5 2-6 2-6 ?Dystonia, juvenile-onset Baraitser Winter syndrome (lissencephaly, pachygyria, polymicrogyria, ptosis, coloboma) ACTC1 143 NM_005159.5 2-7 Cardiomyopathy, hypertrophic, 11 Cardiomyopathy, dilated, 1R Left ventricular noncompaction 4 ACTG1 144 NM_001614.5 2-6 2-6 Baraitser Winter Syndrome ACTL6A 24124 NM_004301.5 1-14 developmental delay ACTL6B 160 NM_016188.5 1-14 Global developmental delay Epileptic encephalopathy, early infantile, 76, 618468 ACTN2 164 NM_001103.3 1-21 progressive early-onset muscle weakness ACVR1 171 NM_001105.5 3-11 Fibrodysplasia ossificans progressiva 135100 ACVR2B 174 NM_001106.4 1-11 Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751 file:///data/UtAv_v02-web.html 4/230 2/1/2021 Utviklingsavvik v02 Ekson Gen Gen affisert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* ACVRL1 175 NM_000020.3 2-10 Telangiectasia, hereditary hemorrhagic, type 2, 600376 Heritable pulmonary arterial hypertension ACY1 177 NM_000666.3 2-15 Aminoacylase 1 deficiency (Organic acidurias) ADA 186 NM_000022.4 1-12 Adenosine deaminase deficiency (Disorders of purine metabolism) Infantile enterocolitis & monogenic inflammatory bowel disease Severe combined immunodeficiency due to ADA deficiency, 102700 ADAMTS10 13201 NM_030957.4 3-26 Weill-Marchesani syndrome 1, recessive, 277600 ADAMTS17 17109 NM_139057.4 1-22 Weill-Marchesani syndrome type 4 ADAMTS9 13202 NM_182920.2 1-39 Nephronophthisis Related Ciliopathy ADAMTSL2 14631 NM_014694.4 10-19 2-19 Geleophysic dysplasia 1 231050 ADAR 225 NM_001111.5 1-15 Aicardi-Goutieres syndrome 6 ADAT3 25151 NM_138422.4 2 Mental retardation, autosomal recessive 36, 615286 ADCK3 16812 NM_020247.5 2-15 Coenzyme Q10 deficiency, primary, 4, 612016 ADCK4 19041 NM_024876.4 2-15 Nephrotic syndrome, type 9 ADCY5 236 NM_183357.2 1-21 Dyskinesia, familial, with facial myokymia, 606703 ADK 257 NM_001123.3 1-11 Hypermethioninemia due to adenosine kinase deficiency 614300 ADNP 15766 NM_015339.5 3-5 MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 615873 file:///data/UtAv_v02-web.html 5/230 2/1/2021 Utviklingsavvik v02 Ekson Gen Gen affisert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* ADPRHL2 21304 NM_017825.3 1-6 Intellectual disability, cerebellar atrophy, ataxia and epilepsy ADRA2B 282 NM_000682.7 1 Epilepsy, myoclonic, familial adult, 2, 607876 ADSL 291 NM_000026.4 1-13 Adenylosuccinate lyase deficiency (Disorders of purine metabolism) ADSSL1 20093 NM_199165.2 1-13 Myopathy, distal, 5, 617030 AFF2 3776 NM_002025.4 1-21 Mental retardation, X-linked, FRAXE type, 309548 AFF3 6473 NM_002285.3 3 3-24 Skeletal dysplasia with severe neurological disease Intellectual disability AFF4 17869 NM_014423.4 2-21 CORNELIA DE LANGE-LIKE SYNDROME AFG3L2 315 NM_006796.3 14 1-17 Spinocerebellar ataxia 28 AGA 318 NM_000027.4 1-9 Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short) AGK 21869 NM_018238.4 16 2-16 Acylglycerol kinase deficiency (Senger syndrome) (Disorders of complex lipid synthesis) Sengers syndrome, 212350 Cataract 38, autosomal recessive, 614691 AGL 321 NM_000642.3 2-34 Glycogen storage disease type III, Cori (Glycogen storage disorders) AGO1 3262 NM_012199.5 1-19 Generalized hypotonia Global developmental delay AGPS 327 NM_003659.4 1-20 Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders) file:///data/UtAv_v02-web.html 6/230 2/1/2021 Utviklingsavvik v02 Ekson Gen Gen affisert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* AGRN 329 NM_198576.4 1-36 Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 AGXT 341 NM_000030.3 1-11 Primary hyperoxaluria type I (Disorders of glyoxylate metabolism) AHDC1 25230 NM_001029882.3 6 XIA-GIBBS SYNDROME AHI1 21575 NM_017651.4 3-28 Joubert syndrome 3 608629 AIFM1 8768 NM_004208.4 1-16 Cowchock syndrome, 310490 Combined oxidative phosphorylation deficiency 6, 300816 AIMP1 10648 NM_004757.3 2-7 Leukodystrophy, hypomyelinating, 3, 260600 AIMP2 20609 NM_006303.4 1 1-4 Leukodystrophy, hypomyelinating, 17, 618006 AIPL1 359 NM_014336.5 1-6 Leber congenital amaurosis 4, 604393 Retinitis pigmentosa, juvenile, 604393 Cone-rod dystrophy, 604393 AIRE 360 NM_000383.4 1-14 Autoimmune polyendocrinopathy syndrome , type I, with or without,reversible metaphyseal dysplasia, 240300 AK2 362 NM_001625.4 1-6 RETICULAR DYSGENESIS 267500 AKR1D1 388 NM_005989.4 1-9 Neonatal and Adult Cholestasis Bile acid synthesis defect, congenital, 2 AKT1 391 NM_005163.2 2-14 Cowden
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