Ketotic hypoglycaemia

Gene: LAMP2

Red List (low evidence)

LAMP2 (lysosomal associated membrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000005893
EnsemblGeneIds (GRCh37): ENSG00000005893
OMIM: 309060, Gene2Phenotype
LAMP2 is in 23 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted to red due to expert review.
Created: 8 Jun 2016, 8:43 a.m.
Comment on list classification: Confirmed DD gene for Danon Disease.
Created: 6 Apr 2016, 10:02 a.m.

Alexander Broomfield (Central Manchester Foundation Trust)

Red List (low evidence)

Does not cause hypoglycaemia
Created: 20 Oct 2015, 10:26 a.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).

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).

6 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: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

LAMP2 was added to Ketotic hypoglycaemiapanel. Sources: Emory Genetics Laboratory,UKGTN