Inherited white matter disorders
Gene: COQ8Aadded new-gene-name tagCreated: 9 Dec 2016, 1:36 p.m.
The HGNC-approved symbol for this gene is now COQ8A.Created: 26 Aug 2016, 11:33 a.m.
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, (is on the Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel submitted to the UKGTN by Leeds Genetics Laboratory). It is a confirmed DD gene for COENZYME Q10 DEFICIENCY, more than 3 unrelated cases with different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Coenzyme Q10 deficiency, primary, 4. Green gene in the Mitochondrial panel version 1.10.
Created: 26 Aug 2016, 11:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 4
Publications
Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, primary, 4 to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
ADCK3 was changed to COQ8A
new-gene-name was removed from ADCK3. Panel: Inherited white matter disorders
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
ADCK3 was created by ellenmcdonagh
ADCK3 was added to Inherited white matter disorderspanel. Sources: Expert list