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Possible mitochondrial disorder - nuclear genes

Gene: PC

Green List (high evidence)

PC (pyruvate carboxylase)
EnsemblGeneIds (GRCh38): ENSG00000173599
EnsemblGeneIds (GRCh37): ENSG00000173599
OMIM: 608786, Gene2Phenotype
PC is in 11 panels

4 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
Pyruvate carboxylase deficiency, 266150

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

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.

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

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: PC was added gene: PC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, 266150