×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720
GeneticVariation
BEFREE
WES identified a novel de novo mutation (p.Gly268Arg ) in ACTB (Baraitser-Winter syndrome-1 ), a homozygous stop mutation (p.R2442* ) in ASPM (primary microcephaly type 5), and a novel hemizygous X-chromosomal mutation (p.I250V ) in SLC9A6 (X-linked syndromic mentaly retardation, Christianson type).
29388391
2018
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720
Biomarker
GENOMICS_ENGLAND
Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation.
29788902
2018
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720
GeneticVariation
BEFREE
Dominant negative mutations in ACTB are responsible for Baraitser-Winter syndrome 1 .
27633570
2016
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720
CausalMutation
CLINVAR
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
25052316
2015
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720
Biomarker
GENOMICS_ENGLAND
Genome sequencing identifies major causes of severe intellectual disability.
24896178
2014
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720
Biomarker
GENOMICS_ENGLAND
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
22366783
2012
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720
GeneticVariation
UNIPROT
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
22366783
2012
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720
GermlineCausalMutation
ORPHANET
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
22366783
2012
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720
Biomarker
GENOMICS_ENGLAND
A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.
16685646
2006
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720
CausalMutation
CLINVAR
A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection.
10411937
1999
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720
Biomarker
GENOMICS_ENGLAND
A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection.
10411937
1999
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720
Biomarker
GENOMICS_ENGLAND
A chloroplast gene encoding a protein with one zinc finger.
2505231
1989
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720
GeneticVariation
CLINVAR
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720
Biomarker
CTD_human
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
71
Gene Symbol:
ACTG1
ACTG1
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.300
GermlineCausalMutation
ORPHANET
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
22366783
2012
×
Entrez Id:
10479
Gene Symbol:
SLC9A6
SLC9A6
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.010
GeneticVariation
BEFREE
WES identified a novel de novo mutation (p.Gly268Arg ) in ACTB (Baraitser-Winter syndrome-1 ), a homozygous stop mutation (p.R2442* ) in ASPM (primary microcephaly type 5), and a novel hemizygous X-chromosomal mutation (p.I250V ) in SLC9A6 (X-linked syndromic mentaly retardation, Christianson type).
29388391
2018
×
Entrez Id:
259266
Gene Symbol:
ASPM
ASPM
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.010
GeneticVariation
BEFREE
WES identified a novel de novo mutation (p.Gly268Arg ) in ACTB (Baraitser-Winter syndrome-1 ), a homozygous stop mutation (p.R2442* ) in ASPM (primary microcephaly type 5), and a novel hemizygous X-chromosomal mutation (p.I250V ) in SLC9A6 (X-linked syndromic mentaly retardation, Christianson type).
29388391
2018