Cardiomyopathy_Paediatric
Gene: LAMP2EnsemblGeneIds (GRCh38): ENSG00000005893
EnsemblGeneIds (GRCh37): ENSG00000005893
OMIM: 309060, Gene2Phenotype
LAMP2 is in 13 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Can present predominantly with HCM.Created: 29 Jul 2020, 6:53 a.m. | Last Modified: 29 Jul 2020, 6:53 a.m.
Panel Version: 0.134
Phenotypes
Danon disease (MIM#300257)
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 30681346
- curated as a syndromic gene by ClinGen hypertrophic cardiomyopathy (HCM) working group
DEFINITIVE in clingen for Danon disease.
No evidence of association with isolated HCM
*Males are typically more severely affected than females. The clinical features in females are broader and more variable. (GeneReviews)Created: 29 Jul 2020, 5:22 a.m. | Last Modified: 29 Jul 2020, 5:22 a.m.
Panel Version: 0.89
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 (MIM#300257)
Publications
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
- Expert Review Green
- London South GLH
- South West GLH
- NHS GMS
- Victorian Clinical Genetics Services
- Phenotypes
-
- Danon disease
- syndromic HCM
- 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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LAMP2 was added gene: LAMP2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,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 27604308 Phenotypes for gene: LAMP2 were set to Danon disease; syndromic HCM