Glycogen Storage Diseases
Gene: LAMP2
Danon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. The accumulation of glycogen in muscle and lysosomes originally led to the classification of Danon disease as a variant of glycogen storage disease II (Pompe disease) with 'normal acid maltase' or alpha-glucosidase, however, it may be more accurately classified as a lysosomal disorder.
Included due to phenotypic overlap. Well established gene-disease association.Created: 26 Feb 2021, 10 a.m. | Last Modified: 26 Feb 2021, 10 a.m.
Panel Version: 0.52
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
Gene: lamp2 has been classified as Green List (High Evidence).
Phenotypes for gene: LAMP2 were changed from to Danon disease, MIM# 300257
Mode of inheritance for gene: LAMP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
gene: LAMP2 was added gene: LAMP2 was added to Glycogen Storage Diseases_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LAMP2 was set to Unknown