Dilated Cardiomyopathy and conduction defects
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
4 reviews
Rebecca Whittington (South West GLH)
Danon disease OMIM#300257Created: 25 Mar 2019, 4:30 p.m.
90 DM variants on HGMD, some with DCM and HCM: Including in Walsh by Oxford lab - pathogenic truncating variant. DCM: 5 variants, 2 deemed DM. 1 in a patient with DCM no other genetic cause - two unaffected children do not have the variant Kyaw 2018. 1 CNV call as pathogenic. Note: DCM is part of the clinical synopsis: https://omim.org/clinicalSynopsis/300257Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Variants in this GENE are reported as part of current diagnostic practice
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.
Caroline Wright (Genomics England Curator)
Comment when marking as ready: Danon disease (HCM)Created: 14 Feb 2016, 4:27 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- South West GLH
- London South GLH
- Expert Review Red
- Emory Genetics Laboratory
- OMIM
- 309060
- Clinvar variants
- Variants in LAMP2
- Penetrance
- Complete
- 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
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to LAMP2. Mode of inheritance for gene LAMP2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2019, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to LAMP2.
14 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).
14 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)LAMP2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Emory Genetics Laboratory