Ketotic hypoglycaemia
Gene: PC
PC (pyruvate carboxylase)
EnsemblGeneIds (GRCh38): ENSG00000173599
EnsemblGeneIds (GRCh37): ENSG00000173599
OMIM: 608786, Gene2Phenotype
PC is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000173599
EnsemblGeneIds (GRCh37): ENSG00000173599
OMIM: 608786, Gene2Phenotype
PC is in 10 panels
2 reviews
Alexander Broomfield (Central Manchester Foundation Trust)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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 lactic acidosis, hypotonia, encephalopathy to Pyruvate carboxylase deficiency, OMIM:266150
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