Psykisk utviklingshemming og forsinket utvikling Genpanel, versjon v02 Tabellen er sortert på gennavn (HGNC gensymbol) Navn på gen er iht. HGNC >x10 Andel av genet som har blitt lest med tilfredstillende kvalitet flere enn 10 ganger under sekvensering x10 er forventet dekning; faktisk dekning vil variere. Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) AAAS 13666 NM_015665.5 100% Achalasia-addisonianism-alacrimia syndrome OMIM AASS 17366 NM_005763.3 100% Saccharopinuria OMIM Hyperlysinemia OMIM ABCB7 48 NM_004299.4 100% Anemia, sideroblastic, with ataxia OMIM ABCC9 60 NM_005691.3 99% Hypertrichotic osteochondrodysplasia OMIM ABCD1 61 NM_000033.3 97% Adrenoleukodystrophy OMIM ABCD4 68 NM_005050.3 100% Methylmalonic aciduria and homocystinuria, cblJ type OMIM ABHD5 21396 NM_016006.4 96% Chanarin-Dorfman syndrome OMIM ACAD9 21497 NM_014049.4 100% Mitochondrial complex I deficiency due to ACAD9 deficiency OMIM ACADM 89 NM_000016.5 100% Acyl-CoA dehydrogenase, medium chain, deficiency of OMIM ACADS 90 NM_000017.3 100% Acyl-CoA dehydrogenase, short-chain, deficiency of OMIM ACADVL 92 NM_000018.3 100% VLCAD deficiency OMIM ACAT1 93 NM_000019.3 99% Alpha-methylacetoacetic aciduria OMIM ACO2 118 NM_001098.2 100% Infantile cerebellar-retinal degeneration OMIM ACOX1 119 NM_004035.6 100% Peroxisomal acyl-CoA oxidase deficiency OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ACSL4 3571 NM_004458.2 99% Mental retardation, X-linked 63 OMIM ACTA2 130 NM_001613.2 100% Multisystemic smooth muscle dysfunction syndrome OMIM ACTB 132 NM_001101.3 100% Baraitser-Winter syndrome 1 OMIM ?Dystonia, juvenile-onset OMIM ACTG1 144 NM_001614.3 100% Baraitser-Winter syndrome 2 OMIM ACVR1 171 NM_001105.4 99% Fibrodysplasia ossificans progressiva OMIM ACVR2B 174 NM_001106.3 96% Heterotaxy, visceral, 4, autosomal OMIM ACY1 177 NM_000666.2 100% Aminoacylase 1 deficiency OMIM ADAR 225 NM_001111.4 99% Aicardi-Goutieres syndrome 6 OMIM ADCK3 16812 NM_020247.4 100% Coenzyme Q10 deficiency, primary, 4 OMIM ADK 257 NM_001123.3 100% Hypermethioninemia due to adenosine kinase deficiency OMIM ADNP 15766 NM_015339.3 100% Helsmoortel-van der Aa syndrome OMIM ADRA2B 282 NM_000682.6 100% Epilepsy, myoclonic, familial adult, 2 OMIM ADSL 291 NM_000026.2 100% Adenylosuccinase deficiency OMIM AFF2 3776 NM_002025.3 99% Mental retardation, X-linked, FRAXE type OMIM AFG3L2 315 NM_006796.2 98% Ataxia, spastic, 5, autosomal recessive OMIM AGA 318 NM_000027.3 100% Aspartylglucosaminuria OMIM AGK 21869 NM_018238.3 100% Sengers syndrome OMIM Cataract 38, autosomal recessive OMIM AGL 321 NM_000642.2 99% Glycogen storage disease IIIb OMIM Glycogen storage disease IIIa OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) AGXT 341 NM_000030.2 100% Hyperoxaluria, primary, type 1 OMIM AIFM1 8768 NM_004208.3 100% Cowchock syndrome OMIM Combined oxidative phosphorylation deficiency 6 OMIM AIMP1 10648 NM_004757.3 100% Leukodystrophy, hypomyelinating, 3 OMIM AKT1 391 NM_005163.2 100% Cowden syndrome 6 OMIM AKT3 393 NM_005465.4 100% Megalencephaly-polymicrogyria-polydactyly- hydrocephalus syndrome 2 OMIM ALDH18A1 9722 NM_002860.3 100% Cutis laxa, autosomal recessive, type IIIA OMIM Cutis laxa, autosomal dominant 3 OMIM Spastic paraplegia 9B, autosomal recessive OMIM Spastic paraplegia 9A, autosomal dominant OMIM ALDH3A2 403 NM_000382.2 99% Sjogren-Larsson syndrome OMIM ALDH4A1 406 NM_003748.3 99% Hyperprolinemia, type II OMIM ALDH5A1 408 NM_001080.3 99% Succinic semialdehyde dehydrogenase deficiency OMIM ALDH7A1 877 NM_001182.4 100% Epilepsy, pyridoxine-dependent OMIM ALDOA 414 NM_000034.3 100% Glycogen storage disease XII OMIM ALDOB 417 NM_000035.3 100% Fructose intolerance OMIM ALG1 18294 NM_019109.4 99% Congenital disorder of glycosylation, type Ik OMIM ALG11 32456 NM_001004127.2 100% Congenital disorder of glycosylation, type Ip OMIM ALG12 19358 NM_024105.3 100% Congenital disorder of glycosylation, type Ig OMIM ALG13 30881 NM_001099922.2 99% Congenital disorder of glycosylation, type Is OMIM ALG2 23159 NM_033087.3 100% Myasthenic syndrome, congenital, 14, with tubular aggregates OMIM ?Congenital disorder of glycosylation, type Ii OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ALG3 23056 NM_005787.5 100% Congenital disorder of glycosylation, type Id OMIM ALG6 23157 NM_013339.3 100% Congenital disorder of glycosylation, type Ic OMIM ALG8 23161 NM_024079.4 100% Congenital disorder of glycosylation, type Ih OMIM ALG9 15672 NM_001077691.1 99% Congenital disorder of glycosylation, type Il OMIM ALMS1 428 NM_015120.4 99% Alstrom syndrome OMIM ALPL 438 NM_000478.4 100% Hypophosphatasia, infantile OMIM Hypophosphatasia, childhood OMIM ALX1 1494 NM_006982.2 100% ?Frontonasal dysplasia 3 OMIM ALX3 449 NM_006492.2 79% Frontonasal dysplasia 1 OMIM ALX4 450 NM_021926.3 99% Parietal foramina 2 OMIM Frontonasal dysplasia 2 OMIM AMER1 26837 NM_152424.3 100% Osteopathia striata with cranial sclerosis OMIM AMT 473 NM_000481.3 100% Glycine encephalopathy OMIM ANKRD11 21316 NM_013275.5 100% KBG syndrome OMIM AP1S2 560 NM_003916.4 100% Mental retardation, X-linked syndromic 5 OMIM AP4B1 572 NM_006594.3 99% Spastic paraplegia 47, autosomal recessive OMIM AP4E1 573 NM_007347.4 99% Spastic paraplegia 51, autosomal recessive OMIM AP4M1 574 NM_004722.3 100% Spastic paraplegia 50, autosomal recessive OMIM AP4S1 575 NM_007077.4 100% Spastic paraplegia 52, autosomal recessive OMIM APTX 15984 NM_175073.2 100% Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ARFGEF2 15853 NM_006420.2 99% Periventricular heterotopia with microcephaly OMIM ARG1 663 NM_000045.3 100% Argininemia OMIM ARHGAP31 29216 NM_020754.3 100% Adams-Oliver syndrome 1 OMIM ARHGEF6 685 NM_004840.2 100% Mental retardation, X-linked 46 OMIM ARHGEF9 14561 NM_015185.2 89% Epileptic encephalopathy, early infantile, 8 OMIM ARID1A 11110 NM_006015.4 95% Mental retardation, autosomal dominant 14 OMIM ARID1B 18040 NM_020732.3 93% Mental retardation, autosomal dominant 12 OMIM ARL6 13210 NM_177976.2 100% Bardet-Biedl syndrome 3 OMIM ARSA 713 NM_000487.5 100% Metachromatic leukodystrophy OMIM ARSE 719 NM_000047.2 100% Chondrodysplasia punctata, X-linked recessive OMIM ARX 18060 NM_139058.2 70% Hydranencephaly with abnormal genitalia OMIM Epileptic encephalopathy, early infantile, 1 OMIM Proud syndrome OMIM Partington syndrome OMIM Mental retardation, X-linked 29 and others OMIM Lissencephaly, X-linked 2 OMIM ASAH1 735 NM_177924.3 100% Spinal muscular atrophy with progressive myoclonic epilepsy OMIM Farber lipogranulomatosis OMIM ASL 746 NM_000048.3 100% Argininosuccinic aciduria OMIM ASPA 756 NM_000049.2 99% Canavan disease OMIM ASPM 19048 NM_018136.4 100% Microcephaly 5, primary, autosomal recessive OMIM ASS1 758 NM_000050.4 100% Citrullinemia OMIM ASXL1 18318 NM_015338.5 99% Bohring-Opitz syndrome OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ATIC 794 NM_004044.6 99% AICA-ribosiduria due to ATIC deficiency OMIM ATM 795 NM_000051.3 97% Ataxia-telangiectasia OMIM ATP13A2 30213 NM_022089.3 99% ?Ceroid lipofuscinosis, neuronal, 12 OMIM Kufor-Rakeb syndrome OMIM ATP1A3 801 NM_152296.4 100% CAPOS syndrome OMIM Alternating hemiplegia of childhood 2 OMIM ATP6AP2 18305 NM_005765.2 99% ?Mental retardation, X-linked, syndromic, Hedera type OMIM ATP7A 869 NM_000052.6 98% Occipital horn syndrome OMIM Menkes disease OMIM ATR 882 NM_001184.3 99% Seckel syndrome 1 OMIM ATRX 886 NM_000489.4 99% Mental retardation-hypotonic facies syndrome, X-linked OMIM Alpha-thalassemia/mental retardation syndrome OMIM AUH 890 NM_001698.2 100% 3-methylglutaconic aciduria, type I OMIM AUTS2 14262 NM_015570.3 99% Mental retardation, autosomal dominant 26 OMIM B4GALT7 930 NM_007255.2 99% Ehlers-Danlos syndrome, progeroid type, 1 OMIM BBS1 966 NM_024649.4 100% Bardet-Biedl syndrome 1 OMIM BBS10 26291 NM_024685.3 100% Bardet-Biedl syndrome 10 OMIM BBS12 26648 NM_152618.2 98% Bardet-Biedl syndrome 12 OMIM BBS2 967 NM_031885.3 100% Bardet-Biedl syndrome 2 OMIM BBS4 969 NM_033028.4 100% Bardet-Biedl syndrome 4 OMIM BBS5 970 NM_152384.2 100% Bardet-Biedl syndrome 5 OMIM BBS7 18758 NM_176824.2 99% Bardet-Biedl syndrome 7 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) BBS9 30000 NM_198428.2 100% Bardet-Biedl syndrome 9 OMIM BCAP31 16695 NM_001139441.1 100% Deafness, dystonia, and cerebral hypomyelination OMIM BCKDHA 986 NM_000709.3 100% Maple syrup urine disease, type Ia OMIM BCKDHB 987 NM_183050.2 100% Maple syrup urine disease, type Ib OMIM BCOR 20893 NM_017745.5 99% Microphthalmia, syndromic 2 OMIM BCS1L 1020 NM_004328.4 100% Bjornstad syndrome OMIM Mitochondrial complex III deficiency, nuclear type 1 OMIM Leigh syndrome OMIM BIN1 1052 NM_139343.2 99% Myopathy, centronuclear, autosomal recessive OMIM BLM 1058 NM_000057.3 99% Bloom syndrome OMIM BMP4 1071 NM_001202.3 100% Orofacial cleft 11 OMIM Microphthalmia, syndromic 6 OMIM BMPER 24154 NM_133468.4 99% Diaphanospondylodysostosis OMIM BOLA3 24415 NM_212552.2 100% Multiple mitochondrial dysfunctions syndrome 2 OMIM BRAF 1097 NM_004333.4 97% Cardiofaciocutaneous syndrome OMIM Noonan syndrome 7 OMIM LEOPARD syndrome 3 OMIM BRAT1 21701 NM_152743.3 95% Rigidity and multifocal seizure syndrome, lethal neonatal OMIM BRCA2 1101 NM_000059.3 100% Fanconi anemia, complementation group D1 OMIM BRIP1 20473 NM_032043.2 99% Fanconi anemia, complementation group J OMIM BRWD3 17342 NM_153252.4 99% Mental retardation, X-linked 93 OMIM BSND 16512 NM_057176.2 100% Bartter syndrome, type 4a OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) BTD 1122 NM_000060.3