Acute rhabdomyolysis
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
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6
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
- Expert Review Green
- Phenotypes
-
- Danon disease, OMIM:300257
- OMIM
- 309060
- Clinvar variants
- Variants in LAMP2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Ketotic hypoglycaemia
- Dilated Cardiomyopathy and conduction defects
- Vici Syndrome and other autophagy disorders
- Intellectual disability
- Retinal disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Progressive cardiac conduction disease
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Glycogen storage disease
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
History Filter Activity
19 Jan 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: LAMP2 was added gene: LAMP2 was added to Acute rhabdomyolysis. Sources: Expert Review Green,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) Publications for gene: LAMP2 were set to 24222494; 30527948; 27442649 Phenotypes for gene: LAMP2 were set to Danon disease, OMIM:300257