Mitochondrial disorders
Gene: PC

PC (pyruvate carboxylase)
EnsemblGeneIds (GRCh38): ENSG00000173599
EnsemblGeneIds (GRCh37): ENSG00000173599
OMIM: 608786, Gene2Phenotype
PC is in 10 panels

3 reviews

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:34 a.m.

Panel version: 0.37

Ellen McDonagh (Genomics England Curator)

Comment on phenotypes: Sourced from OMIM.
Created: 12 Feb 2016, 10:32 a.m.

Comment on mode of inheritance: Confirmed on OMIM.
Created: 12 Feb 2016, 10:31 a.m.

Comment on list classification: Both reviewers agree this should be promoted from red.
Created: 12 Feb 2016, 10:31 a.m.

Gene added during review by Carl Fratter (Oxford University Hospitals NHS Trust).
Created: 13 Nov 2015, 3:12 p.m.

Created: 13 Nov 2015, 3:12 p.m.

Panel version: 0

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Arguments can be made for or against inclusion in "mitochondrial disorders", but significant clinical & biochemical overlap (lactic acidosis), so I feel this should be included in the panel.
Created: 28 Sep 2015, 2:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 28 Sep 2015, 2:47 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review

Phenotypes

Pyruvate carboxylase deficiency, OMIM:266150

OMIM

608786

Clinvar variants

Variants in PC

Penetrance

Complete

Panels with this gene

History Filter Activity

13 Apr 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency to Pyruvate carboxylase deficiency, OMIM:266150

12 Feb 2016, Gel status: 4