Hereditary neuropathy
Gene: LAMP2EnsemblGeneIds (GRCh38): ENSG00000005893
EnsemblGeneIds (GRCh37): ENSG00000005893
OMIM: 309060, Gene2Phenotype
LAMP2 is in 23 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Cardiomyopathy
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Not a CMT geneCreated: 9 Dec 2015, 8:49 a.m.
Mary Reilly (Institute of Neurology)
Not a CMT geneCreated: 8 Dec 2015, 3:06 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- Phenotypes
-
- Cardiomyopathy
- OMIM
- 309060
- Clinvar variants
- Variants in LAMP2
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Ketotic hypoglycaemia
- Dilated Cardiomyopathy and conduction defects
- Vici Syndrome and other autophagy disorders
- Intellectual disability
- Fetal anomalies
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Acute rhabdomyolysis
- Rhabdomyolysis and metabolic muscle disorders
- Progressive cardiac conduction disease
- Congenital myopathy
- Arthrogryposis
- Hypertrophic cardiomyopathy
- Glycogen storage disease
- Lysosomal storage disorder
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Cardiomyopathy for gene: LAMP2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to LAMP2.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to LAMP2.
Added New Source
Ellen McDonagh (Genomics England Curator)LAMP2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory