Hereditary ataxia with onset in adulthood
Gene: ZNF592
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.
Originally described as the cause of AR Galloway-Mowat syndrome 1, now clear that WDR73 is main cause of this and subsequent analysis showed original ZNF592 family actually have a homozygous variant in this geneCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat Syndrome 1, 251300
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Galloway-Mowat Syndrome 1, 251300 for gene: ZNF592
Source NHS GMS was added to ZNF592.
Source Wessex and West Midlands GLH was added to ZNF592.
Louise Daugherty: Comment on phenotypes: Implica
gene: ZNF592 was added gene: ZNF592 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ZNF592 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZNF592 were set to Spinocerebellar ataxia, autosomal recessive 5