Dilated and arrhythmogenic cardiomyopathy
Gene: LAMP2
Submitted on behalf of the GMS Cardiology specialist group. Promoted from Red to Green as the group has agreed that this gene should be Green on this panel.Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
Gene on Royal Brompton diagnostic panel, metabolic glycogen storage disease, phenocopy for DCM/DCM part of clinical picture
Sources: Literature, NHS GMSCreated: 19 Sep 2019, 11:20 p.m.
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 (OMIM: 300257)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: LAMP2 were changed from Danon disease (OMIM: 300257) to Danon disease (300257)
Source Expert Review Green was added to LAMP2. Rating Changed from Red List (low evidence) to Green List (high evidence)
Gene: lamp2 has been classified as Red List (Low Evidence).
gene: LAMP2 was added gene: LAMP2 was added to Dilated cardiomyopathy - adult and teen. Sources: Literature,NHS GMS 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 21415759; 12084876 Phenotypes for gene: LAMP2 were set to Danon disease (OMIM: 300257) Review for gene: LAMP2 was set to GREEN gene: LAMP2 was marked as current diagnostic