Transplant Co-Morbidity Superpanel
Gene: LAMP2
LAMP2 (lysosomal associated membrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000005893
EnsemblGeneIds (GRCh37): ENSG00000005893
OMIM: 309060, Gene2Phenotype
LAMP2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000005893
EnsemblGeneIds (GRCh37): ENSG00000005893
OMIM: 309060, Gene2Phenotype
LAMP2 is in 13 panels
0 reviews
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
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Danon disease, MIM#300257
- OMIM
- 309060
- Clinvar variants
- Variants in LAMP2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Glycogen Storage Diseases
- Fetal anomalies
- Additional findings_Paediatric
- Cardiomyopathy_Paediatric
- Mendeliome
- Dilated Cardiomyopathy
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Hypertrophic cardiomyopathy_HCM
History Filter Activity
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: LAMP2 was added gene: LAMP2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green 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 25228319; 27165304; 30681346 Phenotypes for gene: LAMP2 were set to Danon disease, MIM#300257