Ketotic hypoglycaemia

Gene: PGK1

Red List (low evidence)

PGK1 (phosphoglycerate kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000102144
EnsemblGeneIds (GRCh37): ENSG00000102144
OMIM: 311800, Gene2Phenotype
PGK1 is in 14 panels

2 reviews

Alexander Broomfield (Central Manchester Foundation Trust)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Remains red due to expert review.
Created: 8 Jun 2016, 12:40 p.m.

History Filter Activity

8 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

19 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PGK1 was added to Ketotic hypoglycaemiapanel. Sources: UKGTN