Possible mitochondrial disorder - nuclear genes
Gene: C1QBP
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 33, 617713
Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported 4 unrelated cases.Created: 18 Dec 2018, 12:35 p.m.
Four unrelated individuals described with bi-allelic variants in this gene, and combined oxidative phosphorylation deficiency.Created: 27 Aug 2018, 9:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 33, MIM#617713
Publications
gene: C1QBP was added gene: C1QBP was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33, 617713