Hyperammonaemia

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

Peter Clayton (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pyruvate carboxylase deficiency Group B

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least nine variants reported
Created: 18 Aug 2016, 1:56 p.m.

Ellen McDonagh (Genomics England Curator)

Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Pyruvate carboxylase deficiency 266150
OMIM
608786
Clinvar variants
Variants in PC
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Nov 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 on 22nd November 2016

18 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

18 Aug 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

PC was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

18 Aug 2016, Gel status: 1

clearsources

Sarah Leigh (Genomics England Curator)

PCAll sources for gene: PC were removed

18 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PC were set to Pyruvate carboxylase deficiency 266150

18 Aug 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

5 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

PC was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory