Retinal disorders
Gene: COQ2
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 10:23 a.m. | Last Modified: 10 Oct 2023, 10:23 a.m.
Panel Version: 4.34
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 25 Oct 2022, 11:02 a.m. | Last Modified: 25 Oct 2022, 11:02 a.m.
Panel Version: 2.290
Associated with Coenzyme Q10 deficiency, primary, 1, OMIM:607426 and as definitive Gen2Phen gene for this condition. PMID: 36266294 reports four variants in three unrelated cases with retinitis pigmentosa.
Sources: LiteratureCreated: 25 Oct 2022, 10:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 1, OMIM:607426; coenzyme Q10 deficiency, primary, 1, MONDO:0011829
Publications
Tag Q4_22_MOI was removed from gene: COQ2. Tag Q4_22_promote_green was removed from gene: COQ2.
Source Expert Review Green was added to COQ2. Source NHS GMS was added to COQ2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: coq2 has been classified as Amber List (Moderate Evidence).
gene: COQ2 was added gene: COQ2 was added to Retinal disorders. Sources: Literature Q4_22_MOI, Q4_22_promote_green tags were added to gene: COQ2. Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ2 were set to 36266294 Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, OMIM:607426; coenzyme Q10 deficiency, primary, 1, MONDO:0011829 Review for gene: COQ2 was set to GREEN