Ketotic hypoglycaemia

Gene: PC

Green List (high evidence)

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

2 reviews

Alexander Broomfield (Central Manchester Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added by reviewer and rated as green for inclusion on this panel. It is a confirmed DD gene for Pyruvate carboxylase deficiency and has multiple cases with different variants reported on OMIM.
Created: 8 Jun 2016, 9:23 a.m.
Comment on mode of inheritance: Confirmed on OMIM and G2P, and by reviewer.
Created: 20 Apr 2016, 1:37 p.m.
Comment on list classification: Gene added by reviewer. It is a confirmed DD gene for Pyruvate carboxylase deficiency.
Created: 20 Apr 2016, 1:36 p.m.

History Filter Activity

8 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Apr 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PC was changed to BIALLELIC, autosomal or pseudoautosomal

20 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Oct 2015, Gel status: 0

Added New Source

Alexander Broomfield (Central Manchester Foundation Trust)

PC was added to Ketotic hypoglycaemiapanel. Sources: Literature