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Mitochondrial disease
Gene: MPC1

MPC1 (mitochondrial pyruvate carrier 1)
EnsemblGeneIds (GRCh38): ENSG00000060762
EnsemblGeneIds (GRCh37): ENSG00000060762
OMIM: 614738, Gene2Phenotype
MPC1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Six families reported.
Created: 19 May 2022, 3:35 a.m. | Last Modified: 19 May 2022, 3:35 a.m.

Panel Version: 0.815

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial pyruvate carrier deficiency, MIM# 614741

Publications

Created: 19 May 2022, 3:35 a.m.
Last Modified: 19 May 2022, 3:35 a.m.
Panel version: 0.815

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Mitochondrial pyruvate carrier deficiency, MIM# 614741

OMIM

Clinvar variants

Variants in MPC1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

19 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mpc1 has been classified as Green List (High Evidence).

19 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MPC1 were changed from Mitochondrial pyruvate carrier deficiency, MIM# 614741 to Mitochondrial pyruvate carrier deficiency, MIM# 614741

19 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MPC1 were changed from Mitochondrial pyruvate carrier deficiency, MIM# 614741 to Mitochondrial pyruvate carrier deficiency, MIM# 614741

19 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MPC1 were changed from to Mitochondrial pyruvate carrier deficiency, MIM# 614741

19 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MPC1 were set to

19 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MPC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

19 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MPC1 was added gene: MPC1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: MPC1 was set to Unknown