Hearing Impairment gene panel dg216

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HEARING IMPAIRMENT GENE PANEL DG 2.16 (173 genes) Releasedate: 07-06-2019 Gene ACTBMedian % covered coverage > 10x 80,5 100.0%ACTG1116,3 100.0%100.0%ADCY1…
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HEARING IMPAIRMENT GENE PANEL DG 2.16 (173 genes) Releasedate: 07-06-2019 Gene ACTBMedian % covered coverage > 10x 80,5 100.0%ACTG1116,3 100.0%100.0%ADCY1 ADGRV1134,5 96.8% 126 99.7%95.4% 98.4%90 99.8%96.7%AIFM1APOPT1 ATP1A3NC% covered > 20x 99.7%NC 159,8 100.0%NC 100.0%ATP2B2 ATP6V1B1 BCS1L163 100.0% 172,2 100.0% 147,9 100.0%99.8% 100.0% 100.0%BDP1 BMP4135,3 98.2% 173,4 100.0%94.3% 100.0%BSND139,4 100.0%99.9%CABP2 CACNA1D76,6 78.5% 127,4 98.0%71.0% 97.7%CCDC50122,1 100.0%99.7%Associated phenotype description and OMIM disease ID ?Dystonia, juvenile-onset, 607371 Baraitser-Winter syndrome 1, 243310 Baraitser-Winter syndrome 2, 614583 Deafness, autosomal dominant 20/26, 604717 ?Deafness, autosomal recessive 44, 610154 ?Febrile seizures, familial, 4, 604352 Usher syndrome, type 2C, 605472 Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 Combined oxidative phosphorylation deficiency 6, 300816 Cowchock syndrome, 310490 Deafness, X-linked 5, 300614 Mitochondrial complex IV deficiency, 220110 Alternating hemiplegia of childhood 2, 614820 CAPOS syndrome, 601338 Dystonia-12, 128235 {Deafness, autosomal recessive 12, modifier of}, 601386 Renal tubular acidosis with deafness, 267300 Bjornstad syndrome, 262000 GRACILE syndrome, 603358 Leigh syndrome, 256000 Mitochondrial complex III deficiency, nuclear type 1, 124000 ?Deafness, autosomal recessive 112, 618257 Microphthalmia, syndromic 6, 607932 Orofacial cleft 11, 600625 Bartter syndrome, type 4a, 602522 Sensorineural deafness with mild renal dysfunction, 602522 Deafness, autosomal recessive 93, 614899 Primary aldosteronism, seizures, and neurologic abnormalities, 615474 Sinoatrial node dysfunction and deafness, 614896 ?Deafness, autosomal dominant 44, 607453CD164 CDC14A CDH23121,8 99.0% 150,1 99.6% 172,7 100.0%94.5% 97.4% 100.0%CEACAM16130,5 100.0%100.0%CEP78 CIB2120,1 99.7% 198 99.9%97.6% 99.4%CLDN14 CLIC5 CLPP CLRN1111,7 97,6 139,3 135,3100.0% 100.0% 100.0% 100.0%99.9% 99.9% 99.2% 99.4%COCH159,5 100.0%99.9%COL11A196,6 97.9%94.0%COL11A2111,6 100.0%99.4%COL2A1112,2 100.0%99.7%?Deafness, autosomal dominant 66, 616969 Deafness, autosomal recessive 32, with or without immotile sperm, 608653 Deafness, autosomal recessive 12, 601386 Usher syndrome, type 1D, 601067 Usher syndrome, type 1D/F digenic, 601067 {Pituitary adenoma 5, multiple types}, 617540 Deafness, autosomal dominant 4B, 614614 Deafness, autosomal recessive 113, 618410 Cone-rod dystrophy and hearing loss, 617236 Deafness, autosomal recessive 48, 609439 Usher syndrome, type IJ, 614869 Deafness, autosomal recessive 29, 614035 ?Deafness, autosomal recessive 103, 616042 Perrault syndrome 3, 614129 Retinitis pigmentosa 61, 614180 Usher syndrome, type 3A, 276902 ?Deafness, autosomal recessive 110, 618094 Deafness, autosomal dominant 9, 601369 Fibrochondrogenesis 1, 228520 Marshall syndrome, 154780 Stickler syndrome, type II, 604841 {Lumbar disc herniation, susceptibility to}, 603932 Deafness, autosomal dominant 13, 601868 Deafness, autosomal recessive 53, 609706 Fibrochondrogenesis 2, 614524 Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 Achondrogenesis, type II or hypochondrogenesis, 200610 Avascular necrosis of the femoral head, 608805 Czech dysplasia, 609162 Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 Kniest dysplasia, 156550 Legg-Calve-Perthes disease, 150600 Osteoarthritis with mild chondrodysplasia, 604864 Platyspondylic skeletal dysplasia, Torrance type, 151210 SED congenita, 183900 SMED Strudwick type, 184250 Spondyloepiphyseal dysplasia, Stanescu type, 616583COL4A390,5 99.6%97.7%COL4A492,4 99.8%97.4%COL4A5 COL4A6 COL9A156,8 96.8% 81,4 97.1% 132,3 100.0%85.7% 92.0% 99.7%COL9A295,2 99.9%98.8%CRYM DCDC282,5 99.8% 150 99.9%97.2% 99.8%NC NC 174 100.0% 101,7 99.9%NC NC 99.6% 99.6%82,7 99.7% 154 99.8%96.9% 98.9%79 98.4%93.8%DFNA5 DFNB59 DIABLO DIAPH1 DIAPH3 DMXL2 DSPPNC NCEDN3135,2 100.0%100.0%EDNRB120,9 96.9%92.5%ELMOD3135,8 100.0%99.9%Spondyloperipheral dysplasia, 271700 Stickler sydrome, type I, nonsyndromic ocular, 609508 Stickler syndrome, type I, 108300 Vitreoretinopathy with phalangeal epiphyseal dysplasia, 0 Alport syndrome 2, autosomal recessive, 203780 Alport syndrome 3, autosomal dominant, 104200 Hematuria, benign familial, 141200 Alport syndrome 2, autosomal recessive, 203780 Hematuria, familial benign, 141200 Alport syndrome 1, X-linked, 301050 ?Deafness, X-linked 6, 300914 ?Epiphyseal dysplasia, multiple, 6, 614135 Stickler syndrome, type IV, 614134 ?Stickler syndrome, type V, 614284 Epiphyseal dysplasia, multiple, 2, 600204 Deafness, autosomal dominant 40, 616357 ?Deafness, autosomal recessive 66, 610212 Nephronophthisis 19, 616217 Sclerosing cholangitis, neonatal, 617394 Deafness, autosomal dominant 5, 600994 Deafness, autosomal recessive 59, 610220 Deafness, autosomal dominant 64, 614152 Deafness, autosomal dominant 1, 124900 Seizures, cortical blindness, microcephaly syndrome, 616632 Auditory neuropathy, autosomal dominant, 1, 609129 ?Deafness, autosomal dominant 71, 617605 ?Polyendocrine-polyneuropathy syndrome, 616113 Deafness, autosomal dominant 39, with dentinogenesis, 605594 Dentin dysplasia, type II, 125420 Dentinogenesis imperfecta, Shields type II, 125490 Dentinogenesis imperfecta, Shields type III, 125500 Central hypoventilation syndrome, congenital, 209880 Waardenburg syndrome, type 4B, 613265 {Hirschsprung disease, susceptibility to, 4}, 613712 ABCD syndrome, 600501 Waardenburg syndrome, type 4A, 277580 {Hirschsprung disease, susceptibility to, 2}, 600155 ?Deafness, autosomal recessive 88, 615429EPS8 EPS8L2 ERAL1 ESPN114,6 159,7 156,5 30,899.8% 99.0% 100.0% 53.5%96.6% 96.3% 100.0% 42.4%ESRP1 ESRRB EXOSC2 EYA195,3 121,7 110,3 120,299.8% 99.9% 100.0% 99.9%98.4% 99.1% 99.9% 99.8%EYA4136,9 100.0%99.9%FGF3 FOXF2 FOXI1 GAB1 GATA3 GIPC3 GJB2139,5 104,8 194,5 155,1 220,5 127,8 141,4100.0% 94.9% 100.0% 100.0% 100.0% 98.9% 100.0%100.0% 91.6% 100.0% 99.5% 100.0% 95.2% 100.0%GJB3228,5 100.0%100.0%GJB6140,9 100.0%100.0%GPSM2119,6 99.8%99.0%?Deafness, autosomal recessive 102, 615974 Deafness autosomal recessive 106, 617637 Perrault syndrome 6, 617565 Deafness, autosomal recessive 36, 609006 Deafness, neurosensory, without vestibular involvement, autosomal dominant, 0 ?Deafness, autosomal recessive 109, 618013 Deafness, autosomal recessive 35, 608565 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, 617763 ?Otofaciocervical syndrome, 166780 Anterior segment anomalies with or without cataract, 602588 Branchiootic syndrome 1, 602588 Branchiootorenal syndrome 1, with or without cataracts, 113650 ?Cardiomyopathy, dilated, 1J, 605362 Deafness, autosomal dominant 10, 601316 Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 No OMIM phenotype Enlarged vestibular aqueduct, 600791 ?Deafness, autosomal recessive 26, 605428 Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 Deafness, autosomal recessive 15, 601869 Bart-Pumphrey syndrome, 149200 Deafness, autosomal dominant 3A, 601544 Deafness, autosomal recessive 1A, 220290 Hystrix-like ichthyosis with deafness, 602540 Keratitis-ichthyosis-deafness syndrome, 148210 Keratoderma, palmoplantar, with deafness, 148350 Vohwinkel syndrome, 124500 Deafness, autosomal dominant 2B, 612644 Deafness, autosomal dominant, with peripheral neuropathy, 0 Deafness, autosomal recessive, 0 Deafness, digenic, GJB2/GJB3, 220290 Erythrokeratodermia variabilis et progressiva 1, 133200 Deafness, autosomal dominant 3B, 612643 Deafness, autosomal recessive 1B, 612645 Deafness, digenic GJB2/GJB6, 220290 Ectodermal dysplasia 2, Clouston type, 129500 Chudley-McCullough syndrome, 604213GRAP GREB1L GRHL279,2 85.4% 128 99.9% 116,8 100.0%80.1% 99.0% 100.0%GRXCR1 GRXCR2 HARS154,5 100.0% 112,4 100.0% 134,8 100.0%99.7% 99.9% 100.0%HARS2 HGF HOMER2 HSD17B4136,6 138 113,1 109,4100.0% 99.9% 99.8% 96.3%99.9% 99.2% 97.8% 93.6%IFNLR1 ILDR1 KARS102,2 99.9% 111,5 99.9% 104,1 100.0%98.9% 98.7% 98.8%KCNE1369,2 100.0%100.0%KCNJ10148,6 89.2%88.1%KCNQ1135,8 97.9%95.3%KCNQ4 KITLG165,1 99.2% 83,3 99.6%97.7% 97.2%LARS2122,8 100.0%100.0%LHFPL5 LMX1A LOXHD1 LRP5207,7 106,1 113,3 168,1100.0% 100.0% 99.5% 98.7%100.0% 100.0% 99.9% 99.8%No OMIM phenotype Renal hypodysplasia/aplasia 3, 617805 Corneal dystrophy, posterior polymorphous, 4, 618031 Deafness, autosomal dominant 28, 608641 Ectodermal dysplasia/short stature syndrome, 616029 Deafness, autosomal recessive 25, 613285 ?Deafness, autosomal recessive 101, 615837 Charcot-Marie-Tooth disease, axonal, type 2W, 616625 Usher syndrome type 3B, 614504 ?Perrault syndrome 2, 614926 Deafness, autosomal recessive 39, 608265 ?Deafness, autosomal dominant 68, 616707 D-bifunctional protein deficiency, 261515 Perrault syndrome 1, 233400 No OMIM phenotype Deafness, autosomal recessive 42, 609646 ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 Deafness, autosomal recessive 89, 613916 Jervell and Lange-Nielsen syndrome 2, 612347 Long QT syndrome 5, 613695 Enlarged vestibular aqueduct, digenic, 600791 SESAME syndrome, 612780 Atrial fibrillation, familial, 3, 607554 Jervell and Lange-Nielsen syndrome, 220400 Long QT syndrome 1, 192500 Short QT syndrome 2, 609621 {Long QT syndrome 1, acquired, susceptibility to}, 192500 Deafness, autosomal dominant 2A, 600101 Deafness, autosomal dominant 69, unilateral or asymmetric, 616697 Hyperpigmentation with or without hypopigmentation, 145250 [Skin/hair/eye pigmentation 7, blond/brown hair], 611664 ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 Perrault syndrome 4, 615300 Deafness, autosomal recessive 67, 610265 No OMIM phenotype Deafness, autosomal recessive 77, 613079 Exudative vitreoretinopathy 4, 601813LRTOMT MARVELD2 MCM2 METMIR96 MITF114,4 139 151,9 151,3NC99.1% 98.8% 100.0% 99.9%94.4% 95.9% 100.0% 99.3%NC 141,1 100.0%NC 99.8%MPZL2 MSRB3 MYH1491,7 100.0% 131,9 99.9% 109,8 99.0%99.8% 99.6% 95.1%MYH9128,5 99.6%98.5%MYO15A MYO3A MYO6143,7 99.8% 113 99.2% 101,5 99.5%98.8% 95.3% 96.4%MYO7A125,2 99.8%98.5%NARS2 NLRP3120,7 97.6% 134,6 100.0%97.2% 99.9%Hyperostosis, endosteal, 144750 Osteopetrosis, autosomal dominant 1, 607634 Osteoporosis-pseudoglioma syndrome, 259770 Osteosclerosis, 144750 Polycystic liver disease 4 with or without kidney cysts, 617875 van Buchem disease, type 2, 607636 [Bone mineral density variability 1], 601884 {Osteoporosis}, 166710 Deafness, autosomal recessive 63, 611451 Deafness, autosomal recessive 49, 610153 ?Deafness, autosomal dominant 70, 616968 ?Deafness, autosomal recessive 97, 616705 Hepatocellular carcinoma, childhood type, somatic, 114550 Renal cell carcinoma, papillary, 1, familial and somatic, 605074 {Osteofibrous dysplasia, susceptibility to}, 607278 Deafness, autosomal dominant 50, 613074 COMMAD syndrome, 617306 Tietz albinism-deafness syndrome, 103500 Waardenburg syndrome, type 2A, 193510 Waardenburg syndrome/ocular albinism, digenic, 103470 {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 Deafness, autosomal recessive 111, 618145 Deafness, autosomal recessive 74, 613718 ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 Deafness, autosomal dominant 4A, 600652 Deafness, autosomal dominant 17, 603622 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 Deafness, autosomal recessive 3, 600316 Deafness, autosomal recessive 30, 607101 Deafness, autosomal dominant 22, 606346 Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 Deafness, autosomal recessive 37, 607821 Deafness, autosomal dominant 11, 601317 Deafness, autosomal recessive 2, 600060 Usher syndrome, type 1B, 276900 Combined oxidative phosphorylation deficiency 24, 616239 CINCA syndrome, 607115OPA1124,7 99.7%97.4%OSBPL2 OTOA OTOF138,2 100.0% 97,2 99.7% 135,6 100.0%100.0% 98.3% 99.8%OTOG OTOGL P2RX2 PAX3134,6 104,6 174,5 106,998.8% 97.0% 100.0% 99.7%PCDH15140,3 99.2%99.0%PDE1C PDZD7108 99.8% 93,9 99.6%99.4% 97.8%PET100 PEX187,9 98.0% 127,9 99.9%87.6% 99.3%PEX26 PEX6PNPT199.6% 99.4% 100.0% 100.0%94,3 100.0%99.6%106,5 98.5%92.0%56,1 96.2%84.3%Deafness, autosomal dominant 34, with or without inflammation, 617772 Familial cold inflammatory syndrome 1, 120100 Keratoendothelitis fugax hereditaria, 148200 Muckle-Wells syndrome, 191900 ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 Behr syndrome, 210000 Optic atrophy 1, 165500 Optic atrophy plus syndrome, 125250 {Glaucoma, normal tension, susceptibility to}, 606657 Deafness, autosomal dominant 67, 616340 Deafness, autosomal recessive 22, 607039 Auditory neuropathy, autosomal recessive, 1, 601071 Deafness, autosomal recessive 9, 601071 Deafness, autosomal recessive 18B, 614945 Deafness, autosomal recessive 84B, 614944 Deafness, autosomal dominant 41, 608224 Craniofacial-deafness-hand syndrome, 122880 Rhabdomyosarcoma 2, alveolar, 268220 Waardenburg syndrome, type 1, 193500 Waardenburg syndrome, type 3, 148820 Deafness, autosomal recessive 23, 609533 Usher syndrome, type 1D/F digenic, 601067 Usher syndrome, type 1F, 602083 ?Deafness, autosomal dominant 74, 618140 Deafness, autosomal recessive 57, 618003 Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 {Retinal disease in Usher syndrome type IIA, modifier of}, 276901 Mitochondrial complex IV deficiency, 220110 Heimler syndrome 1, 234580 Peroxisome biogenesis disorder 1A (Zellweger), 214100 Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 Peroxisome biogenesis disorder 7A (Zellweger), 614872 Peroxisome biogenesis disorder 7B, 614873 Heimler syndrome 2, 616617 Peroxisome biogenesis disorder 4A (Zellweger), 614862 Peroxisome biogenesis disorder 4B, 614863 Combined oxidative phosphorylation deficiency 13, 614932 Deafness, autosomal recessive 70, 614934POU3F4 POU4F3 PPIP5K2 PRKCB135,9 261,7 87,9 138,2100.0% 100.0% 98.8% 100.0%PRPS1111,6 100.0%99.9%PTPRQ102,5 94.5%92.3%RAI1 RDX REST194,4 100.0% 38,4 88.0% 115,5 98.5%100.0% 69.1% 98.4%RIPOR2 ROR1 S1PR2 SERPINB6 SIX1111,5 149,1 200,8 138,9 131,1100.0% 99.1% 99.5% 95.9% 99.9%99.8% 97.2% 96.8% 95.9% 98.7%SIX5 SLC17A8 SLC22A4 SLC25A2 SLC26A476,3 121,5 112,9 214,8 11399.9% 100.0% 99.9% 100.0% 100.0%97.3% 99.8% 98.5% 100.0% 99.5%SLC26A5 SLC29A3 SLC33A1130,3 98.3% 173,3 100.0% 132 99.7%95.4% 99.5% 97.7%SLC44A4 SLITRK6 SMPX SNAI2113,9 169,5 63,9 102,799.4% 100.0% 97.0% 99.1%100.0% 100.0% 99.8% 99.9%100.0% 100.0% 94.3% 99.9%Deafness, X-linked 2, 304400 Deafness, autosomal dominant 15, 602459 No OMIM phenotype No OMIM phenotype Hearing loss (Martin-Sierra (2016) Hum Mol Genet epub,epub) Arts syndrome, 301835 Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 Deafness, X-linked 1, 304500 Gout, PRPS-related, 300661 Phosphoribosylpyrophosphate synthetase superactivity, 300661 Deafness, autosomal dominant 73, 617663 Deafness, autosomal recessive 84A, 613391 Smith-Magenis syndrome, 182290 Deafness, autosomal recessive 24, 611022 Fibromatosis, gingival, 5, 617626 {Wilms tumor 6, susceptibility to}, 616806 ?Deafness, autosomal recessive 104, 616515 ?Deafness, autosomal recessive 108, 617654 Deafness, autosomal recessive 68, 610419 ?Deafness, autosomal recessive 91, 613453 Branchiootic syndrome 3, 608389 Deafness, autosomal dominant 23, 605192 Branchiootorenal syndrome 2, 610896 Deafness, autosomal dominant 25, 605583 {Rheumatoid arthritis, susceptibility to}, 180300 No OMIM phenotype Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 Pendred syndrome, 274600 ?Deafness, autosomal recessive 61, 613865 Histiocytosis-lymphadenopathy plus syndrome, 602782 Congenital cataracts, hearing loss, and neurodegeneration, 614482 Spastic paraplegia 42, autosomal dominant, 612539 ?Deafness, autosomal dominant 72, 617606 Deafness and myopia, 221200 Deafness, X-linked 4, 300066 Piebaldism, 172800 Waardenburg syndrome, type 2D, 608890SOX1088,2 100.0%100.0% 99.9% 99.9% 100.0%99.1%SPATA5 STRC SYNE4 TBC1D24139,5 99 83,7 177,799.8% 98.1% 98.5% 100.0%TECTA164,9 100.0%99.9%TIMM8A TJP246,3 94.6% 109,3 94.0%79.9% 93.4%TMC1110,1 99.8%97.5%TMEM132E124,7 99.2%96.5%TMIE TMPRSS3 TMTC2 TNC TPRN TRIOBP TSPEAR104,5 98,5 140,2 143,1 98,7 156,9 139,3100.0% 100.0% 97.5% 100.0% 91.5% 99.1% 100.0%99.7% 99.4% 97.5% 99.7% 86.7% 97.5% 99.8%TYR147,9 100.0%99.9%USH1C92,5 99.9%99.2%USH1G191,3 99.9%98.8%PCWH syndrome, 609136 Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 Waardenburg syndrome, type 4C, 613266 Epilepsy, hearing loss, and mental retardation syndrome, 616577 Deafness, autosomal recessive 16, 603720 Deafness, autosomal recessive 76, 615540 Deafness , autosomal recessive 86, 614617 Deafness, autosomal dominant 65, 616044 DOORS syndrome, 220500 Epileptic encephalopathy, early infantile, 16, 615338 Myoclonic epilepsy, infantile, familial, 605021 Deafness, autosomal dominant 8/12, 601543 Deafness, autosomal recessive 21, 603629 Mohr-Tranebjaerg syndrome, 304700 Cholestasis, progressive familial intrahepatic 4, 615878 Hypercholanemia, familial, 607748 Deafness, autosomal dominant 36, 606705 Deafness, autosomal recessive 7, 600974 No OMIM phenotype Deafness,autosomal dominant 99 (Li et al. Hum Mutat 2015 36(1) 98-105) Deafness, autosomal recessive 6, 600971 Deafness, autosomal recessive 8/10, 601072 No OMIM phenotype Deafness, autosomal dominant 56, 615629 Deafness, autosomal recessive 79, 613307 Deafness, autosomal recessive 28, 609823 ?Deafness, autosomal recessive 98, 614861 Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180 Albinism, oculocutaneous, type IA, 203100 Albinism, oculocutaneous, type IB, 606952 Waardenburg syndrome/albinism, digenic, 103470 [Skin/hair/eye pigmentation 3, blue/green eyes], 601800 [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 Deafness, autosomal recessive 18A, 602092 Usher syndrome, type 1C, 276904 Usher syndrome, type 1G, 606943USH2A129,3 100.0%99.7%WBP2 WFS194,3 100.0% 189,9 100.0%99.9% 99.9%WHRN132,8 99.9%99.0%91,1 98.2%92.3%YAP1Retinitis pigmentosa 39, 613809 Usher syndrome, type 2A, 276901 Deafness, autosomal recessive 107, 617639 ?Cataract 41, 116400 Deafness, autosomal dominant 6/14/38, 600965 Wolfram syndrome 1, 222300 Wolfram-like syndrome, autosomal dominant, 614296 {Diabetes mellitus, noninsulin-dependent, association with}, 125853 Deafness, autosomal recessive 31, 607084 Usher syndrome, type 2D, 611383 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433Gene symbols used follow HGCN guidelines: Gray KA, Yates B, Seal RL, Wright MW, Bruford EA. Nucleic Acids Res. 2015 Jan;43(Database issue):D1079-85. Median Coverage describes the average number of reads seen across 50 exomes. % Covered 10x describes the percentage of a gene’s coding sequence that is covered at least 10x. % Covered 20x describes the percentage of a gene’s coding sequence that is covered at least 20x. Genes with Median Coverage and % Covered 10x/20x denoting NC are non-coding genes for which coverage statistics could not be generated. OMIM release used for OMIM disease identifiers and descriptions : May 8th, 2019. This list is accurate for panel version DG 2.16 Ad 1. “No OMIM phenotype” signifies a gene without a current OMIM association Ad 2. OMIM phenotype descriptions between {} signify risk factors
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