Ataxia and cerebellar anomalies - narrow panel
Gene: WWOX

WWOX (WW domain containing oxidoreductase)
EnsemblGeneIds (GRCh38): ENSG00000186153
EnsemblGeneIds (GRCh37): ENSG00000186153
OMIM: 605131, Gene2Phenotype
WWOX is in 9 panels

0 reviews

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

None

Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: Implica

9 Jan 2019, Gel status: 4

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

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: WWOX was added gene: WWOX was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WWOX were set to Autosomal recessive spinocerebellar ataxia 12 (#614322)

Ataxia and cerebellar anomalies - narrow panel Gene: WWOX