Mitochondrial disorders
Gene: MPC1EnsemblGeneIds (GRCh38): ENSG00000060762
EnsemblGeneIds (GRCh37): ENSG00000060762
OMIM: 614738, Gene2Phenotype
MPC1 is in 4 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment 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.
Zornitza Stark (Australian Genomics)
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
Shamima Rahman (UCL Institute of Child Health)
single mutation report in literatureCreated: 7 Feb 2016, 10:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Mitochondrial pyruvate carrier deficiency, OMIM:614741
- OMIM
- 614738
- Clinvar variants
- Variants in MPC1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MPC1 were changed from Mitochondrial pyruvate carrier deficiency, 614741 to Mitochondrial pyruvate carrier deficiency, OMIM:614741
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: mpc1 has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: MPC1 were set to 22628558
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: MPC1 were set to
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: MPC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to MPC1. Panel: Mitochondrial disorders
Added New Source
Ellen McDonagh (Genomics England Curator)MPC1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen