Congenital neutropaenia
Gene: WASAdded the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412Created: 14 May 2018, 10:01 a.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Three expert reviews recommend Green. Found in 1/4 sources. Three variants reported in the literature in three unrelated families with Neutropenia, severe congenital, X-linked, 300299Created: 25 May 2016, 8:55 a.m.
Gain of function variants of WAS cause neutropenia (disruption of autoinhibition).
LOF variants cause the allelic disorders X-linked thrombocytopenia and Wiskott Aldrich SyndromeCreated: 19 Oct 2015, 10:23 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
severe congenital neutropenia; myelodysplasia
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Publications for WAS were set to 11242115; 16804117
Phenotypes for WAS were set to Neutropenia, severe congenital, X-linked, 300299
WAS was added to Congenital neutropaeniapanel. Sources: Literature
Model of inheritance for gene WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene WAS were set to Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900; Neutropenia, severe congenital, X-linked, 300299; Thrombocytopenia, X-linked, intermittent, 313900
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for gene WAS were set to Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900; Neutropenia, severe congenital, X-linked, 300299; Thrombocytopenia, X-linked, intermittent, 313900
Phenotypes for gene WAS were set to Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900; Neutropenia, severe congenital, X-linked, 300299; Thrombocytopenia, X-linked, intermittent, 313900
Phenotypes for gene WAS were set to Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900; Neutropenia, severe congenital, X-linked, 300299; Thrombocytopenia, X-linked, intermittent, 313900
WAS was added to Congenital neutropaeniapanel. Source: Radboud University Medical Center, Nijmegen
WAS was added to Congenital neutropaeniapanel. Sources: Radboud University Medical Center, Nijmegen