Hereditary ataxia - adult onsetGene: DNAJC19
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.
Multiple reports in literature - found in association with cardiomyopathy and multiple other features
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
3-methylglutaconic aciduria type V, 610198
Added phenotypes 3-methylglutaconic aciduria type V, 610198 for gene: DNAJC19
Source NHS GMS was added to DNAJC19.
Source Wessex and West Midlands GLH was added to DNAJC19.
Checked panel against panel constituents. Ready to promote to version 1.
gene: DNAJC19 was added gene: DNAJC19 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC19 were set to 27604308; 16055927; 27426421; 22797137; 27928778 Phenotypes for gene: DNAJC19 were set to dilated cardiomyopathy with ataxia (DCMA) syndrome; 3-methylglutaconic aciduria, type V 610198