Hypertrophic cardiomyopathy
Gene: LAMP2
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 11:26 a.m. | Last Modified: 2 Dec 2019, 11:26 a.m.
Panel Version: 1.81
Danon disease (300257)Created: 25 Mar 2019, 4:30 p.m.
HCM phenocopy - well established geneCreated: 25 Mar 2019, 4:27 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)
Variants in this GENE are reported as part of current diagnostic practice
Gene on Royal Brompton diagnostic panel, metabolic storage disease, phenocopy for HCMCreated: 20 Mar 2019, 1:57 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
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: currently no stated association with HCM, 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
Comment when marking as ready: On Manchester HCM diagnostic panelCreated: 11 Feb 2016, 3:05 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: LAMP2 were set to 27532257; 28369730
Source South West GLH was added to LAMP2.
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 to 27532257; 28369730 Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
LAMP2 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list
Model of inheritance for gene LAMP2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
LAMP2 was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN
Model of inheritance for gene LAMP2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
LAMP2 was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN
LAMP2 was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN