Likely inborn error of metabolism - targeted testing not possible
Gene: COQ7
Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in unrelated cases, together with supportive functional studies.Created: 30 Sep 2019, 10:29 a.m. | Last Modified: 30 Sep 2019, 10:29 a.m.
Panel Version: 1.321
Comment on phenotypes: complex multisystem presentation;primary coenzyme Q10 deficiencyCreated: 30 Sep 2019, 10:25 a.m. | Last Modified: 30 Sep 2019, 10:25 a.m.
Panel Version: 1.320
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).
Phenotypes for gene: COQ7 were changed from complex multisystem presentation; primary coenzyme Q10 deficiency to ?Coenzyme Q10 deficiency, primary, 8 616733
Publications for gene: COQ7 were set to PMID: 26084283
Sarah Leigh: Associated with phenotype in O
gene: COQ7 was added gene: COQ7 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ7 were set to PMID: 26084283 Phenotypes for gene: COQ7 were set to complex multisystem presentation; primary coenzyme Q10 deficiency