rs1555742087
×
Entrez Id:
80816
Gene Symbol:
ASXL3
ASXL3
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.
28955728
2017
rs1555742087
×
Entrez Id:
80816
Gene Symbol:
ASXL3
ASXL3
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
27901041
2017
rs1555742087
×
Entrez Id:
80816
Gene Symbol:
ASXL3
ASXL3
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo , heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
28100473
2017
rs1555742087
×
Entrez Id:
80816
Gene Symbol:
ASXL3
ASXL3
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
27075689
2016
rs1555742087
×
Entrez Id:
80816
Gene Symbol:
ASXL3
ASXL3
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
26647312
2016
rs1555742087
×
Entrez Id:
80816
Gene Symbol:
ASXL3
ASXL3
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
Synaptic, transcriptional and chromatin genes disrupted in autism.
25363760
2014
rs1555742087
×
Entrez Id:
80816
Gene Symbol:
ASXL3
ASXL3
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
24044690
2013
rs1555742087
×
Entrez Id:
80816
Gene Symbol:
ASXL3
ASXL3
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
23383720
2013
rs1555742087
×
Entrez Id:
80816
Gene Symbol:
ASXL3
ASXL3
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
21706002
2011