All individuals with variants in gene REST

33 entries on 1 page. Showing entries 1 - 33.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00000029 - PubMed: Almomani 2011 - - - - - - - - - - - 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 - - - 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 - - - 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 - - - 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 - - - WT - 1 1 Tamara Hettipathirana
00058559 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 2 generation family, 1 affected M no (United Kingdom (Great Britain)) - >03y11m - - - 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 - - - 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 - - - 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 - - - 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 - - - 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 - - - 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 - - - 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 - - - WT nephroblastoma/Wilms tumor (HP:0002667) 1 3 Tamara Hettipathirana
00058567 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 first cousin of FAM0481 M no (United Kingdom (Great Britain)) - >00y06m - - - WT nephroblastoma/Wilms tumor (HP:0002667), reduced phenylalanine hydroxylase activity(HP:0005982) 1 1 Tamara Hettipathirana
00401174 II:1 PubMed: Fu 2020 - M - China - - - - - USH pure-tone audiometry: binaural moderate to severe deafness with sloping audiograms, increased thresholds across all frequencies (left ear: 68.3 dB; right ear: 66.7 dB); air-bone gap value: > 10 dB which eqals mixed deafness (both sensorineural and conductive defects). The proband reported normal vision and declined ophthalmic examination (may still develop symptoms, so Usher syndrome is plausible) 1 1 LOVD
00416320 FamPat1 PubMed: Rahikkala 2022, Journal: Rahikkala 2022 2-generation family, 3 affected (father/2 daughters) F no Finland - - - - - GINGF5 - 1 3 Elisa Rahikkala
00420046 FamPat2 PubMed: Rahikkala 2022, Journal: Rahikkala 2022 sister F no Finland - - - - - GINGF5 - 1 1 Elisa Rahikkala
00420048 FamPat3 PubMed: Rahikkala 2022, Journal: Rahikkala 2022 father M no Finland - - - - - GINGF5 - 1 1 Elisa Rahikkala
00428310 FamPatIV3 PubMed: Manyisa 2021 4-generation family, 2 affected, mother/son, (F, M), 2 unaffected (half sister and maternal grandmother) M no South Africa Africa >12y - - - DFNA 3y-hearing impairment, progressive 1 2 Yacouba Dia
00428650 BAB4122 PubMed: Bayram 2017, Journal: Bayram 2017 2-generation family, 2 affected brothers and mildly affected father M - Turkey - - - - - GINGF see paper; ..., gingival fibromatosis; gingivectomy; pectus deformity; osteomyelitis, osteoporosis 1 3 Johan den Dunnen
00428651 BAB4124 PubMed: Bayram 2017, Journal: Bayram 2017 father M - Turkey - - - - - GINGF see paper; ..., mild gingival fibromatosis; no pectus deformity 1 1 Johan den Dunnen
00428652 BAB4125 PubMed: Bayram 2017, Journal: Bayram 2017 brother M - Turkey - - - - - GINGF see paper; ..., gingival fibromatosis; gingivectomy; pectus deformity; osteomyelitis, osteoporosis 1 1 Johan den Dunnen
00428653 BAB4235 PubMed: Bayram 2017, Journal: Bayram 2017 3-generation family, 7 affected (2F, 5M) M - Turkey - - - - - GINGF see paper; ..., gingival fibromatosis; no pectus deformity 1 7 Johan den Dunnen
00428654 BAB4236 PubMed: Bayram 2017, Journal: Bayram 2017 mother F - Turkey - - - - - GINGF see paper; ..., gingival fibromatosis; no pectus deformity 1 1 Johan den Dunnen
00428655 BAB4237 PubMed: Bayram 2017, Journal: Bayram 2017 sister F - Turkey - - - - - GINGF see paper; ..., gingival fibromatosis; no pectus deformity 1 1 Johan den Dunnen
00428656 BAB4238 PubMed: Bayram 2017, Journal: Bayram 2017 brother M - Turkey - - - - - GINGF see paper; ..., gingival fibromatosis; no pectus deformity 1 1 Johan den Dunnen
00428657 BAB4239 PubMed: Bayram 2017, Journal: Bayram 2017 uncle M - Turkey - - - - - GINGF see paper; ..., gingival fibromatosis; no pectus deformity 1 1 Johan den Dunnen
00428658 Fam3Pat PubMed: Bayram 2017, Journal: Bayram 2017 2-generation family, 1 affected, unaffected parents F - Turkey - - - - - GINGF see paper; ..., gingival fibromatosis; gingivectomy/recurrence; pectus deformity; small hiatal hernia, short stature, recurrent upper respiratory infections 1 1 Johan den Dunnen
00428659 PamPatIII3 PubMed: Chen 2021, Journal: Chen 2021 3-generation family, 7 affected (3F, 4M) M no Taiwan - - - - - GINGF gingival overgrowth; no hearing loss 1 1 Johan den Dunnen
00428660 Fam2PatII2 PubMed: Chen 2021, Journal: Chen 2021 2-generation family, 1 affected, unaffected non carrier parents F no Taiwan - - - - - GINGF see paper; ..., gingival overgrowth, gingiva thick, covered parts dental crowns, particularly over posterior teeth, surface gingiva smooth, palatal and facial gingivae upper dental arch prominent but with minimal inflammation; mucosae outside of tooth-bearing area, incl. cheek, tongue, lip, floor of mouth appeared normal with no signs of overgrowth; teeth generally spaced apart and misaligned;no dental caries; panoramic radiograph no apparent bony pathology upper/lower jaws; no hearing loss 1 1 Johan den Dunnen
00428661 FamC PubMed: Machado 2022, Journal: Machado 2022 3-generation family, 4 affected (2F, 2M) F;M - Brazil - - - - - GINGF see paper; ..., gingival fibromatosis, no hearing loss 1 4 Johan den Dunnen
00428665 FamLMG2 PubMed: Peters 2008, PubMed: Nakano 2018 2-generation family, 12 affected (6F, 6M) F;M no United States - - - - - DFNA see paper; ..., progressive, non-syndromic, sensorineural hearing loss 1 12 Johan den Dunnen
00443407 Fam2 PubMed: Redfield 2024, PubMed: Redfield 2023, Journal: Redfield 2023 2-generation family, 1 affected, unaffected heterozygous parents M yes United States - - - - - HL see paper; ..., moderate to severe congenital bilateral sensorineural hearing loss 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.