Congenital myopathy

Gene: LAMP2

Amber List (moderate evidence)

LAMP2 (lysosomal associated membrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000005893
EnsemblGeneIds (GRCh37): ENSG00000005893
OMIM: 309060, Gene2Phenotype
LAMP2 is in 24 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
vacuolar myopathy?

Publications

Variants in this GENE are reported as part of current diagnostic practice

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Age of onset out of range for this panel.
Created: 7 Mar 2017, 4:32 p.m.
Comment on publications: Evidence for causation but age of onset out of keeping (PMID 21415759 first symptoms in males 12.1 years and 27.9 years in females), often with cardiomyopathy as first presentation.
Created: 7 Mar 2017, 4:31 p.m.
Comment on list classification: Age of onset not consistent with congenital myopathy
Created: 7 Mar 2017, 4:30 p.m.

Anna Sarkozy (Great Ormond Street Hospital)

I don't know

note: this gene causes a vacuolar myopathy and perhaps could be also considered in the Vici syndrome and other autophagic disorders (panel 222). please discuss with the reviewers of that panel
Created: 30 May 2019, 4:59 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
vacuolar myopathy, Danon disease

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

17 Oct 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: LAMP2 were changed from vacuolar myopathy? to vacuolar myopathy?; Danon disease, 300257

30 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to LAMP2.

30 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to LAMP2.

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

7 Mar 2017, Gel status: 2

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for LAMP2 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

7 Mar 2017, Gel status: 2

Set publications

Helen Brittain (Genomics England Curator)

Publications for LAMP2 were set to 12084876; 21415759

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Mar 2017, Gel status: 0

Added New Source

Anna Sarkozy (Great Ormond Street Hospital)

LAMP2 was added to Congenital myopathypanel. Sources: Expert Review

6 Mar 2017, Gel status: 0

Created

Anna Sarkozy (Great Ormond Street Hospital)

LAMP2 was created by anna.sarkozy