Dilated and arrhythmogenic cardiomyopathy
Gene: LAMP2EnsemblGeneIds (GRCh38): ENSG00000005893
EnsemblGeneIds (GRCh37): ENSG00000005893
OMIM: 309060, Gene2Phenotype
LAMP2 is in 23 panels
2 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. Promoted from Red to Green as the group has agreed that this gene should be Green on this panel.Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
Gene on Royal Brompton diagnostic panel, metabolic glycogen storage disease, phenocopy for DCM/DCM part of clinical picture
Sources: Literature, NHS GMSCreated: 19 Sep 2019, 11:20 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 (OMIM: 300257)
Publications
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
-
- Expert Review Green
- Phenotypes
-
- Danon disease (300257)
- OMIM
- 309060
- Clinvar variants
- Variants in LAMP2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Ketotic hypoglycaemia
- Dilated Cardiomyopathy and conduction defects
- Vici Syndrome and other autophagy disorders
- Intellectual disability
- Retinal disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Progressive cardiac conduction disease
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Glycogen storage disease
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: LAMP2 were changed from Danon disease (OMIM: 300257) to Danon disease (300257)
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to LAMP2. Rating Changed from Red List (low evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: lamp2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)gene: LAMP2 was added gene: LAMP2 was added to Dilated cardiomyopathy - adult and teen. Sources: Literature,NHS GMS 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 21415759; 12084876 Phenotypes for gene: LAMP2 were set to Danon disease (OMIM: 300257) Review for gene: LAMP2 was set to GREEN gene: LAMP2 was marked as current diagnostic