Phagocyte Defects
Gene: WAS

WAS (Wiskott-Aldrich syndrome)
EnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 16 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated families reported. Note variants in this gene also cause Wiskott-Aldrich syndrome and isolated thrombocytopenia.
Created: 28 Jul 2021, 4:59 a.m. | Last Modified: 28 Jul 2021, 4:59 a.m.

Panel Version: 0.130

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Neutropaenia, severe congenital, X-linked, MIM# 300299

Publications

Created: 28 Jul 2021, 4:59 a.m.
Last Modified: 28 Jul 2021, 4:59 a.m.
Panel version: 0.130

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Neutropaenia, severe congenital, X-linked, MIM# 300299

OMIM

300392

Clinvar variants

Variants in WAS

Penetrance

None

Publications

Panels with this gene