rs132630273
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
0.810
GeneticVariation
BEFREE
Molecular analysis of the first case identified a mutation in exon 2 of the gene coding for WASP, leading to a p.Thr45Met amino acid change and confirming the diagnosis of X-linked thrombocytopenia .
28641574 2017
rs143885622
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
0.010
GeneticVariation
BEFREE
In total, three patients revealed low expression of WASP associated with a <i>WAS</i> gene c.1378 C>T p.Pro460Ser mutation, which has previously been reported as a pathogenic mutation in WAS and X-linked thrombocytopenia .
29358862 2017
rs2737799
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
0.010
GeneticVariation
BEFREE
We report on six female members of the same family carrying the mutated WAS allele p.V332A , which is known to be associated with XLT .
23689198 2013
rs132630273
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
T
0.810
CausalMutation
CLINVAR
rs782290433
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
21185603 2011
rs782290433
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.
11793485 2002
rs782290433
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.
20173115 2010
rs782290433
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype.
8595430 1995
rs782290433
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Four amino acid substitutions, Leu27Phe, Thr48Ile, Val75Met and Arg477Lys, were found in patients with congenital thrombocytopenia and no clinically evident immune defect indicating that the WASP gene is the site for mutations in X-linked thrombocytopenia as well as in WAS.
8528199 1995
rs782290433
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.
8528198 1995
rs782290433
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Herein we report 2 siblings with chronic thrombocytopenia that were diagnosed with XLT based on a missense mutation in the WASP gene (223G>A , Val75Met ).
27264129 2011
rs782290433
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Clinical course of patients with WASP gene mutations.
12969986 2004
rs782290433
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.
15284122 2004
rs782290433
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Defective thymic output in WAS patients is associated with abnormal actin organization.
28931895 2017
rs782290433
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.
9326235 1997
rs782290433
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
SUMOylation-disrupting WAS mutation converts WASp from a transcriptional activator to a repressor of NF-κB response genes in T cells.
26261240 2015
rs782290433
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.
19817875 2009
rs1057517845
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.700
CausalMutation
CLINVAR
rs132630268
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.700
CausalMutation
CLINVAR
[WASP gene mutation analysis of a family of X-linked thrombocytopenia].
20959042 2010
rs132630268
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.700
CausalMutation
CLINVAR
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.
15284122 2004
rs132630268
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.700
CausalMutation
CLINVAR
Clinical course of patients with WASP gene mutations.
12969986 2004
rs132630268
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.700
CausalMutation
CLINVAR
Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome.
23033889 2013
rs132630268
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.700
CausalMutation
CLINVAR
Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.
9326235 1997
rs132630268
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.700
CausalMutation
CLINVAR
Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India.
22523910 2012
rs132630268
×
Entrez Id: 7454
Gene Symbol: WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.700
CausalMutation
CLINVAR
Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein.
10202051 1999