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Prepair 1000+

Gene: WAS

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

Definitive gene disease association. Severe immune dysfunction in childhood, complete penetrance but variable phenotype (mildest can be just thrombocytopenia).

Neutropenia, severe congenital is caused by missense variants in the GTPase binding region (L270, S272, I294).

X-linked thrombocytopenia (XLT) is a less severe form of Wiskott-Aldrich syndrome (WAS). Patients are assigned a phenotype score 1-5 (5 being most severe) based on clinical features (PMID: 12040832). Variants that have residual protein expression (“WASP present/reduced”) are associated with mild disease (XLT, phenotypic score 1 or 2); null variants (“WASP absent”) are associated with severe disease (WAS, phenotypic score 3-5) (PMID: 12969986).

Although most female carriers are asymptomatic, there are rare reports of carrier females that are affected due to skewed X-inactivation (GeneReviews, OMIM, PMID: 23689198).
Created: 6 Feb 2025, 5:29 a.m. | Last Modified: 6 Feb 2025, 5:29 a.m.
Panel Version: 1.1459

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neutropenia, severe congenital, X-linked, MIM#300299; Thrombocytopenia, X-linked, MIM#313900; Wiskott-Aldrich syndrome, MIM#301000

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neutropenia, severe congenital, X-linked, MIM#300299
  • Thrombocytopenia, X-linked, MIM#313900
  • Wiskott-Aldrich syndrome, MIM#301000
OMIM
300392
Clinvar variants
Variants in WAS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: was has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WAS were changed from Wiskott-Aldrich syndrome, 301000 (3) to Neutropenia, severe congenital, X-linked, MIM#300299; Thrombocytopenia, X-linked, MIM#313900; Wiskott-Aldrich syndrome, MIM#301000

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WAS were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Wiskott-Aldrich syndrome, 301000 (3) for gene: WAS

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WAS was added gene: WAS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: WAS were set to Wiskott-Aldrich syndrome, 301000 (3)