Hereditary ataxia
Gene: WWOXEnsemblGeneIds (GRCh38): ENSG00000186153
EnsemblGeneIds (GRCh37): ENSG00000186153
OMIM: 605131, Gene2Phenotype
WWOX is in 9 panels
1 review
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Good evidence in lit. Positive in our cohortCreated: 24 Nov 2015, 4:58 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia 12 (#614322)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Autosomal recessive spinocerebellar ataxia 12, 614322
- OMIM
- 605131
- Clinvar variants
- Variants in WWOX
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: WWOX were changed from Autosomal recessive spinocerebellar ataxia 12 (#614322) to Autosomal recessive spinocerebellar ataxia 12, 614322
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)WWOX was added to Hereditary ataxiapanel. Sources: Expert Review
Created
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)WWOX was created by jonathan.williams