Psykisk utviklingshemming og andre utviklingsavvik Genpanel, versjon v04 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 AARS 20 NM_001605.2 100% Charcot-Marie-Tooth disease, axonal, type 2N OMIM Epileptic encephalopathy, early infantile, 29 OMIM AASS 17366 NM_005763.3 100% Hyperlysinemia OMIM Saccharopinuria OMIM ABCB11 42 NM_003742.2 100% Cholestasis, benign recurrent intrahepatic, 2 OMIM Cholestasis, progressive familial intrahepatic 2 OMIM ABCB7 48 NM_004299.5 100% Anemia, sideroblastic, with ataxia OMIM ABCC6 57 NM_001171.5 93% Arterial calcification, generalized, of infancy, 2 OMIM Pseudoxanthoma elasticum OMIM Pseudoxanthoma elasticum, forme fruste OMIM ABCC9 60 NM_005691.3 100% Hypertrichotic osteochondrodysplasia OMIM ABCD1 61 NM_000033.3 77% Adrenoleukodystrophy OMIM Adrenomyeloneuropathy, adult OMIM ABCD4 68 NM_005050.3 100% Methylmalonic aciduria and homocystinuria, cblJ type OMIM ABHD5 21396 NM_016006.4 100% Chanarin-Dorfman syndrome OMIM ACAD9 21497 NM_014049.4 99% 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 Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ACAN 319 NM_013227.3 84% ?Spondyloepimetaphyseal dysplasia, aggrecan type OMIM Osteochondritis dissecans, short stature, and early-onset osteoarthritis OMIM Spondyloepiphyseal dysplasia, Kimberley type OMIM ACAT1 93 NM_000019.3 100% Alpha-methylacetoacetic aciduria OMIM ACO2 118 NM_001098.2 97% Infantile cerebellar-retinal degeneration OMIM ACOX1 119 NM_004035.6 100% Peroxisomal acyl-CoA oxidase deficiency OMIM ACP5 124 NM_001111035.2 100% Spondyloenchondrodysplasia with immune dysregulation OMIM ACSL4 3571 NM_004458.2 99% Mental retardation, X-linked 63 OMIM ACTA1 129 NM_001100.3 100% Myopathy, actin, congenital, with cores OMIM Myopathy, actin, congenital, with excess of thin myofilaments OMIM Myopathy, congenital, with fiber-type disproportion 1 OMIM Nemaline myopathy 3, autosomal dominant or recessive OMIM ACTA2 130 NM_001613.2 100% Aortic aneurysm, familial thoracic 6 OMIM Moyamoya disease 5 OMIM Multisystemic smooth muscle dysfunction syndrome OMIM ACTB 132 NM_001101.3 99% Baraitser-Winter syndrome 1 OMIM ACTG1 144 NM_001614.3 100% Baraitser-Winter syndrome 2 OMIM Deafness, autosomal dominant 20/26 OMIM ACVR1 171 NM_001105.4 100% Fibrodysplasia ossificans progressiva OMIM ACVR2B 174 NM_001106.3 100% Heterotaxy, visceral, 4, autosomal OMIM ACY1 177 NM_000666.2 100% Aminoacylase 1 deficiency OMIM ADA 186 NM_000022.3 100% Adenosine deaminase deficiency, partial OMIM Severe combined immunodeficiency due to ADA deficiency OMIM ADAR 225 NM_001111.4 100% Aicardi-Goutieres syndrome 6 OMIM Dyschromatosis symmetrica hereditaria OMIM ADCK3 16812 NM_020247.4 100% Coenzyme Q10 deficiency, primary, 4 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ADK 257 NM_001123.3 100% Hypermethioninemia due to adenosine kinase deficiency OMIM ADNP 15766 NM_015339.4 100% Helsmoortel-van der Aa syndrome OMIM ADRA2B 282 NM_000682.6 100% Epilepsy, myoclonic, familial adult, 2 OMIM ADSL 291 NM_000026.3 100% Adenylosuccinase deficiency OMIM AFF2 3776 NM_002025.3 99% Mental retardation, X-linked, FRAXE type OMIM AFF3 6473 NM_002285.2 98% Skeletal dysplasia with severe neurologic disease AFF4 17869 NM_014423.3 100% CHOPS syndrome OMIM AFG3L2 315 NM_006796.2 96% Spinocerebellar ataxia 28 OMIM Spastic ataxia 5, autosomal recessive OMIM AGA 318 NM_000027.3 100% Aspartylglucosaminuria OMIM AGK 21869 NM_018238.3 100% Cataract 38, autosomal recessive OMIM Sengers syndrome OMIM AGL 321 NM_000642.2 100% Glycogen storage disease IIIa OMIM Glycogen storage disease IIIb OMIM AGPS 327 NM_003659.3 99% Rhizomelic chondrodysplasia punctata, type 3 OMIM AGXT 341 NM_000030.2 100% Hyperoxaluria, primary, type 1 OMIM AHDC1 25230 NM_001029882.3 99% Xia-Gibbs syndrome OMIM AHI1 21575 NM_017651.4 100% Joubert syndrome 3 OMIM AIFM1 8768 NM_004208.3 100% Combined oxidative phosphorylation deficiency 6 OMIM Cowchock syndrome OMIM Deafness, X-linked 5 OMIM AIMP1 10648 NM_004757.3 100% Leukodystrophy, hypomyelinating, 3 OMIM AIPL1 359 NM_014336.4 100% Cone-rod dystrophy OMIM Leber congenital amaurosis 4 OMIM Retinitis pigmentosa, juvenile OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) AIRE 360 NM_000383.3 100% Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia OMIM AK2 362 NM_001625.3 100% Reticular dysgenesis OMIM AKR1D1 388 NM_005989.3 99% Bile acid synthesis defect, congenital, 2 OMIM AKT1 391 NM_005163.2 99% Cowden syndrome 6 OMIM Proteus syndrome, somatic OMIM AKT3 393 NM_005465.4 99% Megalencephaly-polymicrogyria-polydactyly- hydrocephalus syndrome 2 OMIM ALAD 395 NM_000031.5 100% Porphyria, acute hepatic OMIM ALDH18A1 9722 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 ALDH1A3 409 NM_000693.3 100% Microphthalmia, isolated 8 OMIM ALDH3A2 403 NM_000382.2 100% Sjogren-Larsson syndrome OMIM ALDH4A1 406 NM_003748.3 100% Hyperprolinemia, type II OMIM ALDH5A1 408 NM_001080.3 99% Succinic semialdehyde dehydrogenase deficiency OMIM ALDH7A1 877 NM_001182.4 99% Epilepsy, pyridoxine-dependent OMIM ALDOA 414 NM_000034.3 100% Glycogen storage disease XII OMIM ALDOB 417 NM_000035.3 100% Fructose intolerance, hereditary OMIM ALG1 18294 NM_019109.4 55% 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 Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ALG13 30881 NM_001099922.2 99% Epileptic encephalopathy, early infantile, 36 OMIM ALG2 23159 NM_033087.3 100% ?Congenital disorder of glycosylation, type Ii OMIM Myasthenic syndrome, congenital, 14, with tubular aggregates OMIM ALG3 23056 NM_005787.5 100% Congenital disorder of glycosylation, type Id OMIM ALG6 23157 NM_013339.3 99% Congenital disorder of glycosylation, type Ic OMIM ALG8 23161 NM_024079.4 100% Congenital disorder of glycosylation, type Ih OMIM ALG9 15672 NM_024740.2 99% Congenital disorder of glycosylation, type Il OMIM Gillessen-Kaesbach-Nishimura syndrome OMIM ALMS1 428 NM_015120.4 99% Alstrom syndrome OMIM ALPL 438 NM_000478.5 100% Hypophosphatasia, adult OMIM Hypophosphatasia, childhood OMIM Hypophosphatasia, infantile OMIM Odontohypophosphatasia OMIM ALS2 443 NM_020919.3 100% Amyotrophic lateral sclerosis 2, juvenile OMIM Primary lateral sclerosis, juvenile OMIM Spastic paralysis, infantile onset ascending OMIM ALX1 1494 NM_006982.2 100% ?Frontonasal dysplasia 3 OMIM ALX3 449 NM_006492.2 92% Frontonasal dysplasia 1 OMIM ALX4 450 NM_021926.3 99% Frontonasal dysplasia 2 OMIM Parietal foramina 2 OMIM AMER1 26837 NM_152424.3 99% Osteopathia striata with cranial sclerosis OMIM AMPD2 469 NM_001257360.1 100% Pontocerebellar hypoplasia, type 9 OMIM AMT 473 NM_000481.3 100% Glycine encephalopathy OMIM ANKH 15492 NM_054027.4 100% Chondrocalcinosis 2 OMIM Craniometaphyseal dysplasia OMIM ANKRD11 21316 NM_013275.5 97% KBG syndrome OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ANKRD26 29186 NM_014915.2 98% Thrombocytopenia 2 OMIM ANO5 27337 NM_213599.2 100% Gnathodiaphyseal dysplasia OMIM Miyoshi muscular dystrophy 3 OMIM Muscular dystrophy, limb-girdle, type 2L OMIM ANTXR1 21014 NM_032208.2 98% GAPO syndrome OMIM AP1S2 560 NM_003916.4 91% Mental retardation, X-linked syndromic 5 OMIM AP3B2 567 NM_004644.4 99% Epileptic encephalopathy, early infantile, 48 OMIM AP4B1 572 NM_006594.4 100% Spastic paraplegia 47, autosomal recessive OMIM AP4E1 573 NM_007347.4 100% Spastic paraplegia 51, autosomal recessive OMIM Stuttering, familial persistent, 1 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 APOA1BP 18453 NM_144772.2 100% Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy OMIM APOPT1 20492 NM_032374.4 100% Mitochondrial complex IV deficiency OMIM APTX 15984 NM_175073.2 94% Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM AR 644 NM_000044.4 98% Androgen insensitivity OMIM Androgen insensitivity, partial, with or without breast cancer OMIM Hypospadias 1, X-linked OMIM Spinal and bulbar muscular atrophy of Kennedy OMIM ARCN1 649 NM_001655.4 100% Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay OMIM ARFGEF2 15853 NM_006420.2 99% Periventricular heterotopia with microcephaly OMIM ARG1 663 NM_000045.3 100% Argininemia OMIM ARHGAP31 29216 NM_020754.3 99% Adams-Oliver syndrome 1 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ARHGEF6 685 NM_004840.2 100% Mental retardation, X-linked 46 OMIM ARHGEF9 14561 NM_015185.2 100% Epileptic encephalopathy, early infantile, 8 OMIM ARID1A 11110 NM_006015.4 98% Coffin-Siris syndrome 2 OMIM ARID1B 18040 NM_020732.3 99% Coffin-Siris syndrome 1 OMIM ARID2 18037 NM_152641.3 99% ARID2-Coffin-Siris Like Disorder ARL6 13210 NM_177976.3