Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: COQ8BEnsemblGeneIds (GRCh38): ENSG00000123815
EnsemblGeneIds (GRCh37): ENSG00000123815
OMIM: 615567, Gene2Phenotype
COQ8B is in 7 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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: LiteratureCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: coq8b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: coq8b has been classified as Green List (High Evidence).
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