Mitochondrial disorders
Gene: COX20
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Confirmed on OMIM.Created: 10 Feb 2016, 11:59 a.m.
Comment on list classification: Both reviewers agree this should be promoted from red to green, and one reports variants within this gene as part of clinical diagnostic practice.Created: 10 Feb 2016, 11:57 a.m.
aka FAM36A;
two mutation reports in literatureCreated: 4 Feb 2016, 1:15 p.m.
Victorian Clinical Genetics Services was added to COX20. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for COX20 were set to Isolated complex IV deficiency; Mitochondrial complex IV deficiency, 220110
Mode of inheritance for COX20 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
COX20 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
COX20 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
COX20 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen