Hereditary ataxia with onset in adulthood
Gene: WDR81
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 variants and cases in literatureCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185, Congenital hydrocephalus 3 with brain anomalies, 617967
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185; Congenital hydrocephalus 3 with brain anomalies, 617967 for gene: WDR81
Source NHS GMS was added to WDR81.
Source Wessex and West Midlands GLH was added to WDR81.
Louise Daugherty: Comment on phenotypes: Implica
Phenotypes for gene: WDR81 were changed from Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
gene: WDR81 was added gene: WDR81 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2