All individuals with variants in gene NHS

25 entries on 1 page. Showing entries 1 - 25.
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Gender     

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Age at death     

VIP     

Data_av     

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Disease     

Phenotype details     

Variants     

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Owner     
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 5 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 4 1 Yu Sun
00065055 - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected maternal great grandmother, maternal cousins M no - - - 0 - - CCTRCT L: dense nuclear cataract; R: nuclear cataract, lamellar, posterior polar; L: hypoplastic iris, nystagmus; severe mental retardation 1 3 Johan den Dunnen
00106135 - - - M no (Belgium) - - 0 - - NHS congenital diaphragmatic hernia (HP:0000776 ), congenital cataract (HP:0000519) 1 1 Molka Kammoun
00173116 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 3 Lucy Raymond
00173117 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173118 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173119 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173120 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 2 Lucy Raymond
00173121 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 2 Lucy Raymond
00173122 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173123 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 9 Lucy Raymond
00173124 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00183167 25644381-FamT149 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
00294999 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 13 Mohammed Faruq
00302949 Pat5 PubMed: Fieremans 2016 - F - - - - 0 - - ID see paper; ..., mild intellectual disability, autism spectrum disorder, congenital cataract microphthalmia, abnormal teeth 1 1 Johan den Dunnen
00305287 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 8 Mohammed Faruq
00324493 173214 - - M ? Saudi Arabia - - 0 - - NHS (+) Abnormality of the lens,(+) Cataract / Cataracta congenita, no family history of cataract 1 1 Andreas Laner
00336008 - PubMed: Sergouniotis 2016 analysis 181 cases - - United Kingdom (Great Britain) - - 0 - - CTRCT - 1 1 LOVD
00374788 S-1100 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
00380473 WHP86 PubMed: Sun 2018 - F - China - - 0 - - ? - 1 1 LOVD
00384308 13587 PubMed: Wang 2019 - M - China - - 0 - - retinal disease - 1 1 LOVD
00385465 14022259 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - 0 - - retinal disease - 1 1 LOVD
00392274 27 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - 0 - - retinal disease aphakia nystagmus, marfan syndrome 1 1 LOVD
00392277 37 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - 0 - - retinal disease nuclear 1 1 LOVD
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