Retinal disorders

Gene: COQ8B

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 24 Feb 2025, 5:49 p.m. | Last Modified: 24 Feb 2025, 5:49 p.m.

Panel Version: 7.8

Comment on list classification: As reviewed by Siying Lin, there is sufficient evidence available for the association of this gene with green rating in the next GMS update.

Created: 3 Oct 2024, 12:59 p.m. | Last Modified: 3 Oct 2024, 12:59 p.m.

Panel Version: 6.19

PMID:39226897 reported the identification of compound heterozygous variants in COQ8B gene in five individuals from four different families with non-syndromic retinitis pigmentosa. In total, five different variants were identified from these patients (p.Arg63Trp, p.Trp189Ter, p.Asp386Asn, p.Val442Met and p.Trp520Ter). In addition, cell-based analysis of recombinant proteins deriving from these genotypes showed in all cases a significant decrease in ligand-protein interaction compared to the wild type.

This gene has not yet been associated with retinal phenotype either in OMIM or in Gene2Phenotype.

Created: 3 Oct 2024, 12:57 p.m. | Last Modified: 3 Oct 2024, 12:58 p.m.

Panel Version: 6.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa, MONDO:0019200

Publications

• 39226897

Green List (high evidence)

Recent publication of 4 families with non-syndromic retinal dystrophy associated with biallelic COQ8B variants, with cell-based analysis of recombinant proteins deriving from these genotypes, showing a significant decrease in ligand-protein interaction compared to the wild type.
Sources: Literature

Created: 20 Sep 2024, 6:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy

Publications

• PMID 39226897

Mode of pathogenicity
Other