Ketotic hypoglycaemia

Gene: EPM2A

Red List (low evidence)

EPM2A (EPM2A, laforin glucan phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112425
EnsemblGeneIds (GRCh37): ENSG00000112425
OMIM: 607566, Gene2Phenotype
EPM2A is in 13 panels

2 reviews

Alexander Broomfield (Central Manchester Foundation Trust)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Kept red due to expert review.
Created: 8 Jun 2016, 12:22 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)

EPM2A was added to Ketotic hypoglycaemiapanel. Sources: UKGTN