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  2. Likely inborn error of metabolism
  3. MPC1
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Likely inborn error of metabolism

Gene: MPC1

Green List (high evidence)
MPC1 (mitochondrial pyruvate carrier 1)
EnsemblGeneIds (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.
Created: 2 May 2019, 12:20 p.m.

Panel version: Imported from Mitochondrial disorders panel version 1.253

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Created: 30 Aug 2018, 8:02 a.m.

Panel version: Imported from Mitochondrial disorders panel version 1.67

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single mutation report in literature
Created: 7 Feb 2016, 10:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 7 Feb 2016, 10:43 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.34

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Mitochondrial pyruvate carrier deficiency, OMIM:614741
OMIM
614738
Clinvar variants
Variants in MPC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Apr 2023, Gel status: 3

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

6 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to MPC1. Mode of inheritance for gene MPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial pyruvate carrier deficiency, 614741 for gene: MPC1 Publications for gene MPC1 were changed from to 27176894; 22628558; 27835892 Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MPC1 was added gene: MPC1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MPC1 was set to Unknown Phenotypes for gene: MPC1 were set to Mitochondrial pyruvate carrier deficiency, 614741