Hypertrophic cardiomyopathy
Gene: LAMP2EnsemblGeneIds (GRCh38): ENSG00000005893
EnsemblGeneIds (GRCh37): ENSG00000005893
OMIM: 309060, Gene2Phenotype
LAMP2 is in 23 panels
7 reviews
Ivone Leong (Genomics England Curator)
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
Rebecca Whittington (South West GLH)
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
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
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
Ellen McDonagh (Genomics England Curator)
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.
James Eden (Manchester)
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
Caroline Wright (Genomics England Curator)
Comment when marking as ready: On Manchester HCM diagnostic panelCreated: 11 Feb 2016, 3:05 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- South West GLH
- London South GLH
- North West GLH
- Expert Review Green
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Danon disease (300257)
- syndromic HCM
- OMIM
- 309060
- Clinvar variants
- Variants in LAMP2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Dilated Cardiomyopathy and conduction defects
- Vici Syndrome and other autophagy disorders
- Progressive cardiac conduction disease
- Fetal anomalies
- Dilated and arrhythmogenic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Congenital myopathy
- Hypertrophic cardiomyopathy
- DDG2P
- Retinal disorders
- Glycogen storage disease
- Hereditary neuropathy
- Arthrogryposis
- Acute rhabdomyolysis
- Lysosomal storage disorder
History Filter Activity
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: LAMP2 were set to 27532257; 28369730
Added New Source
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to LAMP2.
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to LAMP2.
Added New Source, Set Phenotypes, Set publications, Status Update
Ellen McDonagh (Genomics England Curator)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)
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)LAMP2 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LAMP2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)LAMP2 was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LAMP2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)LAMP2 was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)LAMP2 was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN