Molecular autopsy
Gene: LAMP2
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 103 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with Danon disease, which includes cardiac manifestations (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 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
Danon disease (300257)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source London South GLH was added to LAMP2.
Source North West GLH was added to LAMP2. Added phenotypes Danon disease (300257) for gene: LAMP2 Publications for gene LAMP2 were changed from 27604308 to 27532257; 28369730
Added phenotypes syndromic HCM; Danon disease for gene: LAMP2
gene: LAMP2 was added gene: LAMP2 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: LAMP2 were set to 27604308 Phenotypes for gene: LAMP2 were set to Danon disease