Cataract
Gene: WAS
WAS (Wiskott-Aldrich syndrome)
EnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 16 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Cannot find any evidence that cataract are a feature of this immunological condition.Created: 7 Apr 2020, 10:17 a.m. | Last Modified: 7 Apr 2020, 10:17 a.m.
Panel Version: 0.103
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Wiskott-Aldrich syndrome MIM#301000
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- OMIM
- 300392
- Clinvar variants
- Variants in WAS
- Penetrance
- None
- Panels with this gene
-
- Predominantly Antibody Deficiency
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Prepair 1000+
- Inflammatory bowel disease
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Vasculitis
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Additional findings_Paediatric
- Phagocyte Defects
- Mendeliome
- IBMDx study
- Cataract
- Prepair 500+
History Filter Activity
7 Apr 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: was has been classified as Red List (Low Evidence).
7 Apr 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: was has been classified as Red List (Low Evidence).
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 Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WAS was set to Unknown