Possible mitochondrial disorder - nuclear genes
Gene: MRPS34
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 32, 617664
Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in 3 unrelated cases.Created: 18 Dec 2018, 1:11 p.m.
Six individuals from four unrelated families reported in the literature with bi-allelic variants in this gene.Created: 30 Aug 2018, 8:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 32, MIM#617664
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: MRPS34 was added gene: MRPS34 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPS34 were set to Combined oxidative phosphorylation deficiency 32, 617664