This Panel is marked as Internal
Paediatric or syndromic cardiomyopathy - previous panel
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
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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
- OMIM
- 309060
- Clinvar variants
- Variants in LAMP2
- Penetrance
- None
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Dilated Cardiomyopathy and conduction defects
- Vici Syndrome and other autophagy disorders
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- 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
21 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: LAMP2 was added gene: LAMP2 was added to Paediatric or syndromic cardiomyopathy. Sources: South West GLH 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)