Cerebral Palsy
Gene: WWOXEnsemblGeneIds (GRCh38): ENSG00000186153
EnsemblGeneIds (GRCh37): ENSG00000186153
OMIM: 605131, Gene2Phenotype
WWOX is in 10 panels
1 review
Luisa Weiss (University of Adelaide)
2 large CP cohort studies with 4 patients in total harbouring a biallelic WWOX mutation. In addition, case reports of patients with epileptic encephalopathy due to WWOX mutations show significant phenotypic overlap with CP
Sources: LiteratureCreated: 8 Jun 2023, 11:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy MIM#616211; Spinocerebellar ataxia MIM#6143223
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Developmental and epileptic encephalopathy MIM#616211
- Spinocerebellar ataxia MIM#6143223
- OMIM
- 605131
- Clinvar variants
- Variants in WWOX
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wwox has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wwox has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: WWOX was added gene: WWOX was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WWOX were set to 34540776; 30361190; 33528536 Phenotypes for gene: WWOX were set to Developmental and epileptic encephalopathy MIM#616211; Spinocerebellar ataxia MIM#6143223 Review for gene: WWOX was set to GREEN