Predominantly Antibody Deficiency
Gene: WAS
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Wiskott-Aldrich syndrome, MIM# 301000; Thrombocytopaenia, X-linked, MIM# 313900; Neutropenia, severe congenital, X-linked , MIM#300299
Mutations in the WAS gene have been found in patients with Wiskott-Aldrich syndrome (#301000), X-linked thrombocytopenia (#313900), and X-linked severe congenital neutropenia (SCNX; #300299).
Missense mutations that cause WAS map primarily to the enabled (609061)/VASP (601703) homology-1 (EVH1) domain of WASP.
PMID: 34307257: Reported Wiskott-Aldrich Syndrome caused by extremely skewed X-Chromosome inactivation in a Chinese Girl.Created: 21 Mar 2022, 9:45 p.m. | Last Modified: 21 Mar 2022, 9:45 p.m.
Panel Version: 0.11705
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Congenital Neutropenia; Throbocytopenia; Immunodefeciency; Eczema
Publications
gene: WAS was added gene: WAS was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: WAS was set to Unknown