Hereditary ataxia with onset in adulthood
Gene: COQ8A
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 patients in literature and our own cohort. Deletions identified but no MLPA kit availableCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary coenzyme Q10 deficiency 4, 612016
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Primary coenzyme Q10 deficiency 4, 612016 for gene: COQ8A
Source NHS GMS was added to COQ8A.
Source Wessex and West Midlands GLH was added to COQ8A.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
gene: COQ8A was added gene: COQ8A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type