Anaemias and red cell disorders
Gene: WASEnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 11 panels
1 review
BRIDGE consortium (NIHRBR-RD)
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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- UKGTN
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Wiskott-Aldrich syndrome, 301000
- Thrombocytopenia, X-linked, 313900Neutropenia, severe congenital, X-linked, 300299
- Thrombocytopenia, X-linked, intermittent, 313900
- Wiskot Aldrich syndrome
- Wiskott-Aldrich syndrome, 301000
- Thrombocytopenia, X-linked, 313900
- Neutropenia, severe congenital, X-linked, 300299
- Thrombocytopenia, X-linked, intermittent, 313900
- Neutropenia, Severe Congenital, X-Linked
- Thrombocytopenia 1
- Wiskott-Aldrich Syndrome
- Inherited Bone Marrow Failure Syndromes - Neutropenia
- Inherited Bone Marrow Failure Syndromes - Thrombocytopenia
- OMIM
- 300392
- Clinvar variants
- Variants in WAS
- Penetrance
- Complete
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Haematological malignancies for rare disease
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- Haematological malignancies cancer susceptibility
- Inherited bleeding disorders
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Wiskott-Aldrich syndrome
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for WAS were set to Wiskott-Aldrich syndrome, 301000;Thrombocytopenia, X-linked, 313900Neutropenia, severe congenital, X-linked, 300299;Thrombocytopenia, X-linked, intermittent, 313900; Wiskot Aldrich syndrome; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900; Neutropenia, severe congenital, X-linked, 300299; Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, Severe Congenital, X-Linked; Thrombocytopenia 1; Wiskott-Aldrich Syndrome; Inherited Bone Marrow Failure Syndromes - Neutropenia; Inherited Bone Marrow Failure Syndromes - Thrombocytopenia
Added New Source
Ellen McDonagh (Genomics England Curator)WAS was added to Anaemias and red cell disorderspanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)WAS was created by ellenmcdonagh