Mitochondrial disorders
Gene: MPC1Comment on list classification: Promoted from red to green based on expert reviews and also mouse models for this gene.Created: 2 May 2019, 12:21 p.m.
Comment on publications: PMID: 27176894 and 27835892 describe mouse models of MPC1 (a knockin model and a knockout model) showing the effects MPC1 has on mitochondrial function.Created: 2 May 2019, 12:20 p.m.
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 Mitochondrial pyruvate carrier deficiency, 614741 to Mitochondrial pyruvate carrier deficiency, OMIM:614741
Gene: mpc1 has been classified as Green List (High Evidence).
Publications for gene: MPC1 were set to 22628558
Publications for gene: MPC1 were set to
Mode of inheritance for gene: MPC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to MPC1. Panel: Mitochondrial disorders
MPC1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen