Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: COQ8B
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
Gene: coq8b has been classified as Green List (High Evidence).
Gene: coq8b has been classified as Green List (High Evidence).
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