Mitochondrial disorders
Gene: COQ7
Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 3 unrelated individuals and functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).Created: 23 May 2019, 1:28 p.m.
An additional variant has been reported in a 6‐year‐old girl who presents with spasticity and bilateral sensorineural hearing loss, together with supporting functional studies and mouse model.Created: 30 Apr 2019, 12:50 p.m.
Publications
Comment on list classification: Added by reviewer who stated that there is one report in the literature - this should therefore be a red gene.Created: 15 Feb 2016, 11:11 a.m.
single mutation report in literatureCreated: 7 Feb 2016, 8:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: coq7 has been classified as Green List (High Evidence).
Publications for gene: COQ7 were set to 26084283; 28409910
Source NHS GMS was added to COQ7. Source Expert Review Green was added to COQ7. Rating Changed from Red List (low evidence) to Green List (high evidence)
Phenotypes for gene: COQ7 were changed from primary coenzyme Q10 deficiency; complex multisystem presentation to ?Coenzyme Q10 deficiency, primary, 8 616733; complex multisystem presentation
Publications for gene: COQ7 were set to PMID: 26084283
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
COQ7 was created by [email protected]
COQ7 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Expert Review