Mitochondrial disorders
Gene: COQ8Aadded new-gene-name tagCreated: 9 Dec 2016, 1:24 p.m.
Comment on mode of inheritance: Source: G2P and OMIM.Created: 10 Feb 2016, 10:58 a.m.
Comment on list classification: Confirmed DD gene for Coenzyme Q10 deficiency, and expert review states this should be promoted from red to green.Created: 10 Feb 2016, 10:57 a.m.
This gene was submitted as "CABC1" in the expert list, which is likely to correspond to this HGNC-approved symbol.Created: 1 Jul 2015, 10:42 a.m.
Victorian Clinical Genetics Services was added to COQ8A. Panel: Mitochondrial disorders
ADCK3 was changed to COQ8A
new-gene-name was removed from ADCK3. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for ADCK3 were set to Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 4, 612016; Coenzyme Q10 deficiency
Mode of inheritance for ADCK3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ADCK3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
ADCK3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
ADCK3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen