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Possible mitochondrial disorder - nuclear genes

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)

Green List (high evidence)

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

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Lactic acidosis and hyperpyruvatemia
OMIM
614738
Clinvar variants
Variants in MPC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

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