Anna Sarkozy edited their review of gene: LAMP2: Added comment: note: this gene causes a vacuolar myopathy and perhaps could be also considered in the Vici syndrome and other autophagic disorders (panel 222). please discuss with the reviewers of that panel; Changed rating: AMBER; Changed publications: •12084876; Changed phenotypes: vacuolar myopathy, Danon disease; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Set current diagnostic: yes
Rachael Mein reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24268659; Phenotypes: Nemaline myopathy 9, 615731; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes