Hereditary ataxia with onset in adulthood
Gene: COX20
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.
Single variant, p.Thr52Pro reported in homozygosity in affected individuals of two families. Good functional evidence provided for the variant in first reportCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Mitochondrial complex IV deficiency for gene: COX20
Source NHS GMS was added to COX20.
Source Wessex and West Midlands GLH was added to COX20.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, 220110
gene: COX20 was added gene: COX20 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal