Vici Syndrome and other autophagy disorders

Gene: LAMP2

Green List (high evidence)

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

2 reviews

Olivia Niblock (Genomics England Curator)

Comment on list classification: All sources (Illumina, Radboud, Emory and UKGTN) link mutations in LAMP2 with Danon disease. More than three unrelated cases with different mutations (including microdeletions) in LAMP2 recorded in the literature as linked to the disease, from different populations and sexes (although it is noted that as an X-linked disorder, there are more male patients listed).
Created: 19 Jun 2017, 9:52 a.m.

Ellen McDonagh (Genomics England Curator)

Is a confirmed DD gene for Danon disease. For mode of inheritance, G2P suggests hemizygous (biallelic in females) whereas OMIM suggests X-linked dominant.
Created: 29 Apr 2016, 7:53 a.m.

History Filter Activity

31 Jul 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.

19 Jun 2017, Gel status: 4

Set publications

Olivia Niblock (Genomics England Curator)

Publications for LAMP2 were set to 26927810; 27179547; 27497751; 27460667; 27145725; 24691104; 24222494

19 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

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

29 Apr 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene LAMP2 were set to Danon disease

29 Apr 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene LAMP2 were set to Danon disease

29 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LAMP2 was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature

29 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LAMP2 was created by ellenmcdonagh