Hereditary ataxia - adult onsetGene: WDR73
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.
Now multiple variants and cases reported in the literature
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Galloway-Mowat Syndrome 1, 251300
Added phenotypes Galloway-Mowat Syndrome 1, 251300 for gene: WDR73
Source NHS GMS was added to WDR73.
Source Wessex and West Midlands GLH was added to WDR73.
Louise Daugherty: Comment on phenotypes: Implica
gene: WDR73 was added gene: WDR73 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR73 were set to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature