Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: COQ8B

Green List (high evidence)

COQ8B (coenzyme Q8B)
EnsemblGeneIds (GRCh38): ENSG00000123815
EnsemblGeneIds (GRCh37): ENSG00000123815
OMIM: 615567, Gene2Phenotype
COQ8B is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

PMID: 39226897 - 5 individuals from 4 unrelated families with non-syndromic RP (normal renal function) and COQ8B chet variants (5 different variants). In vitro functional assays of the variant demonstrated a significant decrease in ligand-protein interaction compared to the wild type.
PMID: 25967120 - 1 case with a homozygous truncating variant reported with FSGS and RP
Sources: Literature
Created: 4 Sep 2024, 11:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa MONDO:0019200

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa MONDO:0019200
OMIM
615567
Clinvar variants
Variants in COQ8B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: coq8b has been classified as Green List (High Evidence).

4 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: coq8b has been classified as Green List (High Evidence).

4 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: COQ8B was added gene: COQ8B was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ8B were set to 39226897; 25967120 Phenotypes for gene: COQ8B were set to Retinitis pigmentosa MONDO:0019200 Review for gene: COQ8B was set to GREEN gene: COQ8B was marked as current diagnostic