Lysosomal storage disorder
Gene: LAMP2EnsemblGeneIds (GRCh38): ENSG00000005893
EnsemblGeneIds (GRCh37): ENSG00000005893
OMIM: 309060, Gene2Phenotype
LAMP2 is in 23 panels
1 review
Carol Hardy (West Midlands Regional Genetics Laboratory)
Phenotypes
Danon disease 300257
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
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Phenotypes
-
- Danon disease OMIM:300257
- Danon disease MONDO:0010281
- OMIM
- 309060
- Clinvar variants
- Variants in LAMP2
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Hereditary neuropathy
- Arthrogryposis
- Fetal anomalies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Congenital myopathy
- Acute rhabdomyolysis
- Intellectual disability
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Dilated Cardiomyopathy and conduction defects
- Vici Syndrome and other autophagy disorders
- Paediatric or syndromic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Lysosomal storage disorder
- Progressive cardiac conduction disease
- Glycogen storage disease
- Retinal disorders
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: LAMP2 were changed from Danon disease 300257 to Danon disease OMIM:300257; Danon disease MONDO:0010281
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: LAMP2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: LAMP2 was added gene: LAMP2 was added to Lysosomal storage disorder. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: LAMP2 was set to Phenotypes for gene: LAMP2 were set to Danon disease 300257