Hereditary ataxia - adult onsetGene: UBR4
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.
Insufficient evidence for any of the reported missenses (vast majority of which are present within gnomAD).
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Episodic ataxia type 8, 616055
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 Episodic ataxia type 8, 616055 for gene: UBR4
Source NHS GMS was added to UBR4.
Source Wessex and West Midlands GLH was added to UBR4.
Louise Daugherty: Comment on phenotypes: Implica
gene: UBR4 was added gene: UBR4 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: UBR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBR4 were set to 23982692 Phenotypes for gene: UBR4 were set to Episodic ataxia