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Inborn errors of metabolism

Gene: PC

Green List (high evidence)

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

3 reviews

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Pyruvate carboxylase deficiency (Disorders of gluconeogenesis)
  • lactic acidosis, hypotonia, encephalopathy
  • Pyruvate carboxylase deficiency 266150
  • Pyruvate carboxylase deficiency
OMIM
608786
Clinvar variants
Variants in PC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PC. Source London North GLH was added to PC.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Pyruvate carboxylase deficiency for gene: PC

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PC was added gene: PC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PC were set to 27604308 Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency (Disorders of gluconeogenesis); lactic acidosis, hypotonia, encephalopathy; Pyruvate carboxylase deficiency 266150; Pyruvate carboxylase deficiency