Bone Marrow Failure

Gene: WAS

Green List (high evidence)

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)

Well established gene-disease association. Thrombocytopaenia is a key feature of Wiskott-Aldrich syndrome and isolated thrombocytopaenia also described with WAS variants.
Sources: Expert list
Created: 17 Aug 2020, 1:06 a.m.

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

Phenotypes
Wiskott-Aldrich syndrome, MIM# 301000; Thrombocytopenia, X-linked, MIM# 313900

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Wiskott-Aldrich syndrome, MIM# 301000
  • Thrombocytopenia, X-linked, MIM# 313900
OMIM
300392
Clinvar variants
Variants in WAS
Penetrance
None
Panels with this gene

History Filter Activity

19 Jun 2021, 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).

19 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WAS were changed from to Wiskott-Aldrich syndrome, MIM# 301000; Thrombocytopenia, X-linked, MIM# 313900

19 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WAS was added gene: WAS was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WAS was set to Unknown