This Panel is marked as Retired
Dilated Cardiomyopathy (DCM)
Gene: LAMP2
LAMP2 (lysosomal associated membrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000005893
EnsemblGeneIds (GRCh37): ENSG00000005893
OMIM: 309060, Gene2Phenotype
LAMP2 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000005893
EnsemblGeneIds (GRCh37): ENSG00000005893
OMIM: 309060, Gene2Phenotype
LAMP2 is in 23 panels
2 reviews
Caroline Wright (Genomics England Curator)
Comment when marking as ready: Danon disease (HCM)Created: 11 Feb 2016, 2:39 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- OMIM
- 309060
- Clinvar variants
- Variants in LAMP2
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Dilated Cardiomyopathy and conduction defects
- Vici Syndrome and other autophagy disorders
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Rhabdomyolysis and metabolic muscle disorders
- Progressive cardiac conduction disease
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Glycogen storage disease
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Acute rhabdomyolysis
- Lysosomal storage disorder
History Filter Activity
11 Feb 2016, Gel status: 1
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
13 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)LAMP2 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Emory Genetics Laboratory