All individuals with variants in gene ASXL1

18 entries on 1 page. Showing entries 1 - 18.
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     
00117884 - PubMed: Hoischen 2011, PubMed: Hastings 2011 - F - - - - 0 - - BOPS - 1 1 Gerard C.P. Schaafsma
00117885 - PubMed: Hoischen 2011 - F - - - - 0 - - BOPS - 1 1 Gerard C.P. Schaafsma
00117886 - PubMed: Hoischen 2011, PubMed: Hastings 2011 - M - - - - 0 - - BOPS - 1 1 Gerard C.P. Schaafsma
00117887 - PubMed: Hoischen 2011, PubMed: Hastings 2011 - F - - - - 0 - - BOPS - 1 1 Gerard C.P. Schaafsma
00117888 - PubMed: Hoischen 2011 - F - - - - 0 - - BOPS - 1 1 Gerard C.P. Schaafsma
00117889 - PubMed: Hoischen 2011, PubMed: Hastings 2011 - F - - - - 0 - - BOPS - 1 1 Gerard C.P. Schaafsma
00117890 - PubMed: Hoischen 2011, PubMed: Hastings 2011 - F - - - - 0 - - BOPS - 1 1 Gerard C.P. Schaafsma
00163907 - - - M - (Germany) - - 0 - - ? HP:0001263 (Global developmental delay) 1 1 IMGAG
00180149 29286531-Pat01 PubMed: Tumienė 2018 - - - (Slovenia) - - 0 - - ? Epilepsy (HP:0001250), generalized tonic-clonic seizures (HP:0025190), intrauterine growth retardation (HP:0001511), severe failure to thrive (HP:0001525), microcephaly (HP:0000252), severe global developmental delay (HP:0011344), atrial septum defect (HP:0001631), sensorineural hearing impairment (HP:0000407), myopia (HP:0000545), facial dysmorphism: bitemporal narrowing (HP:0000341), sparse hair (HP:0008070). 1 1 Johan den Dunnen
00207345 - - - M - - - - 0 - - BOPS - 1 1 Cristina Gervasini
00207348 - - - M - Italy - - 0 - - BOPS - 1 1 Cristina Gervasini
00292905 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00292906 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 13 Mohammed Faruq
00292907 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 17 Mohammed Faruq
00302963 Pat8 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Focal epilepsy, unclassified; age onset unknown 1 1 Johan den Dunnen
00302965 Pat10 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Focal epilepsy, unclassified; age onset unknown 1 1 Johan den Dunnen
00307718 UK10K_FINDWGA5411037 PubMed: Grozeva 2015, Journal: Grozeva 2015 - F - - - - 0 - - ID - 1 1 Johan den Dunnen
00375661 Pat69 PubMed: Srivastava 2014 - - - United States - - 0 - - ? intellectual disability/developmental delay; decreased muscle bulk, broad-based gait; hyper-reflexia; self-injurious behavior; MRI brain normal 1 1 Johan den Dunnen
Legend   How to query