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Cytopenias and congenital anaemias

Gene: WAS

Green List (high evidence)

WAS (Wiskott-Aldrich syndrome)
EnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 12 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 10:03 a.m.

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Sufficient evidence for causation
Created: 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

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • UKGTN
Phenotypes
  • Neutropenia, severe congenital, X-linked 300299
  • Thrombocytopenia, X-linked 313900
  • Thrombocytopenia, X-linked, intermittent 313900
  • Wiskott-Aldrich syndrome 301000
Tags
gene-therapy-trial
OMIM
300392
Clinvar variants
Variants in WAS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Feb 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

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

28 Feb 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for WAS were set to 16804117

28 Feb 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for WAS was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Feb 2017, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

WAS was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

WAS was created by LouiseD