Inherited bleeding disorders
Gene: WAS
WAS (Wiskott-Aldrich syndrome)
EnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 11 panels
2 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/412Created: 14 May 2018, 10:03 a.m.
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Wiskott-Aldrich syndrome
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
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- Wiskott-Aldrich syndrome
- Tags
- OMIM
- 300392
- Clinvar variants
- Variants in WAS
- Penetrance
- Complete
- Panels with this gene
-
- Gastrointestinal epithelial barrier disorders
- Wiskott-Aldrich syndrome
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Bleeding and platelet disorders
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited bleeding disorders
History Filter Activity
19 Dec 2016, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
19 Dec 2016, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)WAS was added to Inherited bleeding disorderspanel. Source: Expert Review Green
9 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)WAS was created by ellenmcdonagh
9 Sep 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)WAS was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene