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