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
-
- Progressive cardiac conduction disease
- Paediatric or syndromic cardiomyopathy
- Glycogen storage disease
- Hypertrophic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Acute rhabdomyolysis
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Dilated Cardiomyopathy and conduction defects
- DDG2P
- Vici Syndrome and other autophagy disorders
- Rhabdomyolysis and metabolic muscle disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy
- Arthrogryposis
- Lysosomal storage disorder
- Dilated and arrhythmogenic cardiomyopathy
- Fetal anomalies
- Congenital myopathy
- Intellectual disability
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Retinal disorders
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