All individuals with variants in gene REST

13 entries on 1 page. Showing entries 1 - 13.
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Owner     
00000029 - PubMed: Almomani 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00056439 - PubMed: Mahamdallie 2015, Journal: Mahamdallie 2015 2-generation family, 1 affected, unaffected carrier father M no (United Kingdom (Great Britain)) - >03y02m 0 - - WT nephroblastoma/Wilms tumor (HP:0002667), acquired von Willebrand disease (HP:0012146); mother marsupialization Bartholin’s cyst (36y); father tubulovillous adenoma rectum, fibroma left foot (35y) 1 1 Tamara Hettipathirana
00057228 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 2 Generation family, 1 affected F no (United Kingdom (Great Britain)) - >00y11m 0 - - WT nephroblastoma/Wilms tumor (HP:0002667) 1 1 Tamara Hettipathirana
00057233 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 2-generation family, 1 affected, unaffected carrier mother M no (United Kingdom (Great Britain)) - >03y04m 0 - - WT nephroblastoma/Wilm's tumour(HP:0002667), café-au-lait patches, hydrocele, abnormal shape of body of mons, abnormality of the stapes(HP_0008628) 1 1 Tamara Hettipathirana
00057271 - PubMed: Mahamadallie 2015 Journal: Mahamdallie 2015 2 generation family, 1 affected M no (United Kingdom (Great Britain)) - >02y10m 0 - - WT - 1 1 Tamara Hettipathirana
00058559 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 2 generation family, 1 affected M no (United Kingdom (Great Britain)) - >03y11m 0 - - WT nephroblastoma/Wilms tumor (HP:0002667) 1 1 Tamara Hettipathirana
00058560 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 2 generation family, 1 affected M no (United Kingdom (Great Britain)) - >03y07m 0 - - WT nephroblastoma/Wilm's tumour(HP:0002667) 1 1 Tamara Hettipathirana
00058561 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 2 generation family, 1 affected, unaffected carrier mother F no (United Kingdom (Great Britain)) - >03y05m 0 - - WT nephroblastoma/Wilms tumor (HP:0002667) 1 1 Tamara Hettipathirana
00058562 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 2 generation family, 1 affected M no (United Kingdom (Great Britain)) - >00y06m 0 - - WT nephroblastoma/Wilms tumor (HP:0002667), mild global developmental delay (HP:0011342) 1 1 Tamara Hettipathirana
00058563 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 2 generation family, 1 affected F no (United Kingdom (Great Britain)) - >04y06m 0 - - WT nephroblastoma/Wilm's tumour(HP:0002667), heart murmur(HP:0030148), patent ductus arteriosus(HP:0001643) 1 1 Tamara Hettipathirana
00058564 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 2-generation family, 2 affected sisters, unaffected carrier mother F no (United Kingdom (Great Britain)) - >03y08m 0 - - WT nephroblastoma/Wilm's tumour(HP:0002667), pleural effusion(HP:0002202), primary ovarian failure(HP:0001587) 1 2 Tamara Hettipathirana
00058565 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 sister of FAM0482 F no (United Kingdom (Great Britain)) - >06y00m 0 - - WT nephroblastoma/Wilms tumor (HP:0002667) 1 1 Tamara Hettipathirana
00058566 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 3-generation family, 3 affected first cousins, 2 unaffected carrier females, 1 unaffected carrier male F no (United Kingdom (Great Britain)) - >03y00m 0 - - WT nephroblastoma/Wilms tumor (HP:0002667) 1 3 Tamara Hettipathirana
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