Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Paediatric or syndromic cardiomyopathy v0.16 LAMP2 Ivone Leong reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.15 LAMP2 Ivone Leong Source NHS GMS was added to LAMP2.
Paediatric or syndromic cardiomyopathy v0.1 LAMP2 Ivone Leong gene: LAMP2 was added
gene: LAMP2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
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 syndromic HCM; Danon disease