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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
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    Whole Exome Sequencing Gene package Skeletal Dysplasia, Version 2.1, 31-1-2020 Technical information DNA was enriched using Agilent SureSelect DNA + SureSelect OneSeq 300kb CNV Backbone + Human All Exon V7 capture and paired-end sequenced on the Illumina platform (outsourced). The aim is to obtain 10 Giga base pairs per exome with a mapped fraction of 0.99. The average coverage of the exome is ~50x. Duplicate and non-unique reads are excluded. Data are demultiplexed with bcl2fastq Conversion Software from Illumina. Reads are mapped to the genome using the BWA-MEM algorithm (reference: http://bio-bwa.sourceforge.net/). Variant detection is performed by the Genome Analysis Toolkit HaplotypeCaller (reference: http://www.broadinstitute.org/gatk/). The detected variants are filtered and annotated with Cartagenia software and classified with Alamut Visual. It is not excluded that pathogenic mutations are being missed using this technology. At this moment, there is not enough information about the sensitivity of this technique with respect to the detection of deletions and duplications of more than 5 nucleotides and of somatic mosaic mutations (all types of sequence changes). HGNC approved Phenotype description including OMIM phenotype ID(s) OMIM median depth % covered % covered % covered gene symbol gene ID >10x >20x >30x ABCC9 Atrial fibrillation, familial, 12, 614050 601439 65 100 100 95 Cardiomyopathy, dilated, 1O, 608569 Hypertrichotic osteochondrodysplasia, 239850 ACAN Short stature and advanced bone age, with or without early-onset osteoarthritis
  • Subbarao K Skeletal Dysplasia (Sclerosing Dysplasias – Part I)

    Subbarao K Skeletal Dysplasia (Sclerosing Dysplasias – Part I)

    REVIEW ARTICLE Skeletal Dysplasia (Sclerosing dysplasias – Part I) Subbarao K Padmasri Awardee Prof. Dr. Kakarla Subbarao, Hyderabad, India Introduction Dysplasia is a disturbance in the structure of Monitoring germ cell Mutations using bone and disturbance in growth intrinsic to skeletal dysplasias incidence of dysplasia is bone and / or cartilage. Several terms have 1500 for 9.5 million births (15 per 1,00,000) been used to describe Skeletal Dysplasia. Skeletal dysplasias constitute a complex SCLEROSING DYSPLASIAS group of bone and cartilage disorders. Three main groups have been reported. The first Osteopetrosis one is thought to be x-linked disorder Pyknodysostosis genetically inherited either as dominant or Osteopoikilosis recessive trait. The second group is Osteopathia striata spontaneous mutation. Third includes Dysosteosclerosis exposure to toxic or infective agent Worth’s sclerosteosis disrupting normal skeletal development. Van buchem’s dysplasia Camurati Engelman’s dysplasia The term skeletal dysplasia is sometimes Ribbing’s dysplasia used to include conditions which are not Pyle’s metaphyseal dysplasia actually skeletal dysplasia. According to Melorheosteosis revised classification of the constitutional Osteoectasia with hyperphosphatasia disorders of bone these conditions are Pachydermoperiosteosis (Touraine- divided into two broad groups: the Solente-Gole Syndrome) osteochondrodysplasias and the dysostoses. There are more than 450 well documented Evaluation by skeletal survey including long skeletal dysplasias. Many of the skeletal bones thoracic cage, hands, feet, cranium and dysplasias can be diagnosed in utero. This pelvis is adequate. Sclerosing dysplasias paper deals with post natal skeletal are described according to site of affliction dysplasias, particularly Sclerosing epiphyseal, metaphyseal, diaphyseal and dysplasias. generalized. Dysplasias with increased bone density Osteopetrosis (Marble Bones): Three forms are reported.