Possible mitochondrial disorder - nuclear genes
Gene: MPC1
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
Lactic acidosis and hyperpyruvatemia
Publications
Four patients from three unrelated consanguineous families reported in the literature with bi-allelic variants in this gene.Created: 30 Aug 2018, 8:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial pyruvate carrier deficiency, MIM#614741
Publications
Variants in this GENE are reported as part of current diagnostic practice
single mutation report in literatureCreated: 7 Feb 2016, 10:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPC1 were changed from Lactic acidosis and hyperpyruvatemia to Mitochondrial pyruvate carrier deficiency, OMIM:614741
gene: MPC1 was added gene: MPC1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPC1 were set to 22628558 Phenotypes for gene: MPC1 were set to Lactic acidosis and hyperpyruvatemia