Hereditary ataxia with onset in adulthood
Gene: WWOX
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Plenty of cases and variants in the literatureCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early infantile epileptic encephalopathy 28, 616211, Autosomal recessive spinocerebellar ataxia 12, 6143232
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Autosomal recessive spinocerebellar ataxia 12, 6143232; Early infantile epileptic encephalopathy 28, 616211 for gene: WWOX
Source NHS GMS was added to WWOX.
Source Wessex and West Midlands GLH was added to WWOX.
Louise Daugherty: Comment on phenotypes: Implica
Phenotypes for gene: WWOX were changed from Autosomal recessive spinocerebellar ataxia 12 (#614322) to Autosomal recessive spinocerebellar ataxia 12, 614322
gene: WWOX was added gene: WWOX was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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)