Cytopenias and congenital anaemias
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, 10:03 a.m.
Comment when marking as ready: Sufficient evidence for causationCreated: 28 Feb 2017, 2:14 p.m.
X-linked recessive inheritance for all described phenotypes. Severe congenital neutropaenia reported in two families with proposed activating mutations following on from functional assessment. Therefore genotype-phenotype correlations may become clearer as the mutational information about the gene builds.Created: 22 Feb 2017, 11:01 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Neutropenia, severe congenital, X-linked 300299; Thrombocytopenia, X-linked 313900; Thrombocytopenia, X-linked, intermittent 313900; Wiskott-Aldrich syndrome 301000
Publications
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Severe congenital neutropenia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
Phenotypes for WAS were set to Neutropenia, severe congenital, X-linked 300299; Thrombocytopenia, X-linked 313900; Thrombocytopenia, X-linked, intermittent 313900; Wiskott-Aldrich syndrome 301000
Publications for WAS were set to 16804117
Mode of inheritance for WAS was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
WAS was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list
WAS was created by LouiseD