Congenital myopathy
Gene: LAMP2
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.
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
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 myopathyCreated: 7 Mar 2017, 4:30 p.m.
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 panelCreated: 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
Phenotypes for gene: LAMP2 were changed from vacuolar myopathy?; Danon disease, 300257 to Danon disease, OMIM:300257
Phenotypes for gene: LAMP2 were changed from vacuolar myopathy? to vacuolar myopathy?; Danon disease, 300257
Source NHS GMS was added to LAMP2.
Source London South GLH was added to LAMP2.
This gene has been classified as Amber List (Moderate Evidence).
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)
Publications for LAMP2 were set to 12084876; 21415759
This gene has been classified as Amber List (Moderate Evidence).
LAMP2 was created by anna.sarkozy
LAMP2 was added to Congenital myopathypanel. Sources: Expert Review