Psykisk utviklingshemming Genpanel, versjon v02 Endring fra v01: Fjernet BRCA2 Tabellen er sortert på gennavn (HGNC gensymbol) Navn på gen er iht. HGNC Kolonnen >x10 viser andel av genet som vi forventer blir lest med tilfredstillende kvalitet flere enn 10 ganger under sekvensering Gen Transkript >10x Fenotype (symbol) AAAS NM_015665.5 100% Achalasia-addisonianism-alacrimia syndrome OMIM AASS NM_005763.3 100% Hyperlysinemia OMIM Saccharopinuria OMIM ABCC9 NM_005691.3 100% Hypertrichotic osteochondrodysplasia OMIM ABCD1 NM_000033.3 76% Adrenoleukodystrophy OMIM ABCD4 NM_005050.3 100% Methylmalonic aciduria and homocystinuria, cblJ type OMIM ABHD5 NM_016006.4 100% Chanarin-Dorfman syndrome OMIM ACAD9 NM_014049.4 100% Mitochondrial complex I deficiency due to ACAD9 deficiency OMIM ACADM NM_000016.5 100% Acyl-CoA dehydrogenase, medium chain, deficiency of OMIM ACADS NM_000017.3 100% Acyl-CoA dehydrogenase, short-chain, deficiency of OMIM ACADVL NM_000018.3 100% VLCAD deficiency OMIM ACAT1 NM_000019.3 100% Alpha-methylacetoacetic aciduria OMIM ACO2 NM_001098.2 97% Infantile cerebellar-retinal degeneration OMIM ACOX1 NM_004035.6 100% Peroxisomal acyl-CoA oxidase deficiency OMIM ACSL4 NM_004458.2 99% Mental retardation, X-linked 63 OMIM Gen Transkript >10x Fenotype (symbol) ACTA2 NM_001613.2 100% Moyamoya disease 5 OMIM Multisystemic smooth muscle dysfunction syndrome OMIM ACTB NM_001101.3 100% ?Dystonia, juvenile-onset OMIM Baraitser-Winter syndrome 1 OMIM ACTG1 NM_001614.3 100% Baraitser-Winter syndrome 2 OMIM Deafness, autosomal dominant 20/26 OMIM ACVR1 NM_001105.4 100% Fibrodysplasia ossificans progressiva OMIM ACVR2B NM_001106.3 100% Heterotaxy, visceral, 4, autosomal OMIM ACY1 NM_000666.2 100% Aminoacylase 1 deficiency OMIM ADAR NM_001111.4 100% Aicardi-Goutieres syndrome 6 OMIM Dyschromatosis symmetrica hereditaria OMIM ADCK3 NM_020247.4 100% Coenzyme Q10 deficiency, primary, 4 OMIM ADK NM_001123.3 100% Hypermethioninemia due to adenosine kinase deficiency OMIM ADNP NM_015339.3 100% Helsmoortel-van der Aa syndrome OMIM ADRA2B NM_000682.6 100% Epilepsy, myoclonic, familial adult, 2 OMIM ADSL NM_000026.2 100% Adenylosuccinase deficiency OMIM AFF2 NM_002025.3 100% Mental retardation, X-linked, FRAXE type OMIM AFG3L2 NM_006796.2 98% Ataxia, spastic, 5, autosomal recessive OMIM Spinocerebellar ataxia 28 OMIM AGA NM_000027.3 100% Aspartylglucosaminuria OMIM AGK NM_018238.3 100% Sengers syndrome OMIM AGL NM_000642.2 100% Glycogen storage disease IIIa OMIM Glycogen storage disease IIIb OMIM AGXT NM_000030.2 100% Hyperoxaluria, primary, type 1 OMIM Gen Transkript >10x Fenotype (symbol) AHDC1 NM_001029882.3 99% Xia-Gibbs syndrome OMIM AIFM1 NM_004208.3 100% Combined oxidative phosphorylation deficiency 6 OMIM Cowchock syndrome OMIM Deafness, X-linked 5 OMIM AIMP1 NM_004757.3 100% Leukodystrophy, hypomyelinating, 3 OMIM AKT1 NM_005163.2 100% Cowden syndrome 6 OMIM AKT3 NM_005465.4 100% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 OMIM ALDH18A1 NM_002860.3 100% Cutis laxa, autosomal dominant 3 OMIM Cutis laxa, autosomal recessive, type IIIA OMIM Spastic paraplegia 9A, autosomal dominant OMIM Spastic paraplegia 9B, autosomal recessive OMIM ALDH3A2 NM_000382.2 100% Sjogren-Larsson syndrome OMIM ALDH4A1 NM_003748.3 100% Hyperprolinemia, type II OMIM ALDH5A1 NM_001080.3 99% Succinic semialdehyde dehydrogenase deficiency OMIM ALDH7A1 NM_001182.4 99% Epilepsy, pyridoxine-dependent OMIM ALDOA NM_000034.3 100% Glycogen storage disease XII OMIM ALDOB NM_000035.3 100% Fructose intolerance OMIM ALG1 NM_019109.4 52% Congenital disorder of glycosylation, type Ik OMIM ALG11 NM_001004127.2 100% Congenital disorder of glycosylation, type Ip OMIM ALG12 NM_024105.3 100% Congenital disorder of glycosylation, type Ig OMIM ALG13 NM_001099922.2 99% Epileptic encephalopathy, early infantile, 36 OMIM ALG2 NM_033087.3 100% ?Congenital disorder of glycosylation, type Ii OMIM Myasthenic syndrome, congenital, 14, with tubular aggregates OMIM ALG3 NM_005787.5 100% Congenital disorder of glycosylation, type Id OMIM Gen Transkript >10x Fenotype (symbol) ALG6 NM_013339.3 99% Congenital disorder of glycosylation, type Ic OMIM ALG8 NM_024079.4 100% Congenital disorder of glycosylation, type Ih OMIM ALG9 NM_001077691.1 100% Congenital disorder of glycosylation, type Il OMIM Gillessen-Kaesbach-Nishimura syndrome OMIM ALMS1 NM_015120.4 100% Alstrom syndrome OMIM ALPL NM_000478.4 100% Hypophosphatasia, adult OMIM Hypophosphatasia, childhood OMIM Hypophosphatasia, infantile OMIM Odontohypophosphatasia OMIM ALX1 NM_006982.2 100% ?Frontonasal dysplasia 3 OMIM ALX3 NM_006492.2 94% Frontonasal dysplasia 1 OMIM ALX4 NM_021926.3 100% Frontonasal dysplasia 2 OMIM Parietal foramina 2 OMIM AMER1 NM_152424.3 100% Osteopathia striata with cranial sclerosis OMIM AMPD2 NM_001257360.1 100% Pontocerebellar hypoplasia, type 9 OMIM AMT NM_000481.3 100% Glycine encephalopathy OMIM ANKRD11 NM_013275.5 98% KBG syndrome OMIM AP1S2 NM_003916.4 91% Mental retardation, X-linked syndromic 5 OMIM AP4B1 NM_006594.3 100% Spastic paraplegia 47, autosomal recessive OMIM AP4E1 NM_007347.4 100% Spastic paraplegia 51, autosomal recessive OMIM AP4M1 NM_004722.3 99% Spastic paraplegia 50, autosomal recessive OMIM AP4S1 NM_007077.4 100% Spastic paraplegia 52, autosomal recessive OMIM APOPT1 NM_032374.4 100% Mitochondrial complex IV deficiency OMIM Gen Transkript >10x Fenotype (symbol) APTX NM_175073.2 94% Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM ARFGEF2 NM_006420.2 100% Periventricular heterotopia with microcephaly OMIM ARG1 NM_000045.3 100% Argininemia OMIM ARHGAP31 NM_020754.3 99% Adams-Oliver syndrome 1 OMIM ARHGEF6 NM_004840.2 100% Mental retardation, X-linked 46 OMIM ARHGEF9 NM_015185.2 100% Epileptic encephalopathy, early infantile, 8 OMIM ARID1A NM_006015.4 99% Coffin-Siris syndrome 2 OMIM ARID1B NM_020732.3 99% Coffin-Siris syndrome 1 OMIM ARL6 NM_177976.2 100% Bardet-Biedl syndrome 3 OMIM {Bardet-Biedl syndrome 1, modifier of} OMIM ARSA NM_000487.5 100% Metachromatic leukodystrophy OMIM ARSE NM_000047.2 99% Chondrodysplasia punctata, X-linked recessive OMIM ARX NM_139058.2 89% Epileptic encephalopathy, early infantile, 1 OMIM Hydranencephaly with abnormal genitalia OMIM Lissencephaly, X-linked 2 OMIM Mental retardation, X-linked 29 and others OMIM Partington syndrome OMIM Proud syndrome OMIM ASAH1 NM_177924.3 100% Farber lipogranulomatosis OMIM Spinal muscular atrophy with progressive myoclonic epilepsy OMIM ASL NM_000048.3 100% Argininosuccinic aciduria OMIM ASPA NM_000049.2 100% Canavan disease OMIM ASPM NM_018136.4 100% Microcephaly 5, primary, autosomal recessive OMIM ASS1 NM_000050.4 98% Citrullinemia OMIM Gen Transkript >10x Fenotype (symbol) ASXL1 NM_015338.5 100% Bohring-Opitz syndrome OMIM ASXL3 NM_030632.1 100% Bainbridge-Ropers syndrome OMIM ATIC NM_004044.6 100% AICA-ribosiduria due to ATIC deficiency OMIM ATM NM_000051.3 100% Ataxia-telangiectasia OMIM ATP13A2 NM_022089.3 100% ?Ceroid lipofuscinosis, neuronal, 12 OMIM Kufor-Rakeb syndrome OMIM ATP1A3 NM_152296.4 100% Alternating hemiplegia of childhood 2 OMIM CAPOS syndrome OMIM Dystonia-12 OMIM ATP6AP2 NM_005765.2 99% ?Mental retardation, X-linked, syndromic, Hedera type OMIM ?Parkinsonism with spasticity, X-linked OMIM ATP7A NM_000052.6 100% Menkes disease OMIM Occipital horn syndrome OMIM Spinal muscular atrophy, distal, X-linked 3 OMIM ATR NM_001184.3 99% GAPO syndrome OMIM Seckel syndrome 1 OMIM ATRX NM_000489.4 99% Alpha-thalassemia/mental retardation syndrome OMIM Mental retardation-hypotonic facies syndrome, X-linked OMIM AUH NM_001698.2 100% 3-methylglutaconic aciduria, type I OMIM AUTS2 NM_015570.3 99% Mental retardation, autosomal dominant 26 OMIM B3GALNT2 NM_152490.4 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 OMIM B4GALT7 NM_007255.2 99% Ehlers-Danlos syndrome with short stature and limb anomalies OMIM BBS1 NM_024649.4 100% Bardet-Biedl syndrome 1 OMIM BBS10 NM_024685.3 100% Bardet-Biedl syndrome 10 OMIM BBS12 NM_152618.2 100% Bardet-Biedl syndrome 12 OMIM BBS2 NM_031885.3 100% Bardet-Biedl syndrome 2 OMIM Retinitis pigmentosa 74 OMIM Gen Transkript >10x Fenotype (symbol) BBS4 NM_033028.4 100% Bardet-Biedl syndrome 4 OMIM BBS5 NM_152384.2 100% Bardet-Biedl syndrome 5 OMIM BBS7 NM_176824.2 100% Bardet-Biedl syndrome 7 OMIM BBS9 NM_198428.2 100% Bardet-Biedl syndrome 9 OMIM BCAP31 NM_001139441.1 98% Deafness, dystonia, and cerebral hypomyelination OMIM BCKDHA NM_000709.3 100% Maple syrup urine disease, type Ia OMIM BCKDHB NM_183050.2 99% Maple syrup urine disease, type Ib OMIM BCOR NM_017745.5 99% Microphthalmia, syndromic 2 OMIM BCS1L NM_004328.4 100% Bjornstad syndrome OMIM GRACILE syndrome OMIM Leigh syndrome OMIM Mitochondrial complex III deficiency, nuclear type 1 OMIM BICD2 NM_001003800.1 100% Spinal muscular atrophy, lower extremity-predominant, 2, AD OMIM BIN1 NM_139343.2 100% Myopathy, centronuclear, autosomal recessive OMIM BLM NM_000057.3 100% Bloom syndrome OMIM BMP4 NM_001202.3 100% Microphthalmia, syndromic 6 OMIM BMPER NM_133468.4 100% Diaphanospondylodysostosis OMIM BOLA3 NM_212552.2 97% Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia OMIM BRAF NM_004333.4 99% Cardiofaciocutaneous syndrome OMIM LEOPARD syndrome 3 OMIM Noonan syndrome 7 OMIM BRAT1 NM_152743.3 100% Rigidity and multifocal seizure syndrome, lethal neonatal OMIM BRIP1 NM_032043.2 100% Fanconi anemia, complementation group J OMIM Gen Transkript >10x Fenotype (symbol) BRWD3 NM_153252.4 99% Mental retardation, X-linked 93 OMIM BSND NM_057176.2