Dilated Cardiomyopathy and conduction defects
Gene: LAMP2
Danon disease OMIM#300257Created: 25 Mar 2019, 4:30 p.m.
90 DM variants on HGMD, some with DCM and HCM: Including in Walsh by Oxford lab - pathogenic truncating variant. DCM: 5 variants, 2 deemed DM. 1 in a patient with DCM no other genetic cause - two unaffected children do not have the variant Kyaw 2018. 1 CNV call as pathogenic. Note: DCM is part of the clinical synopsis: https://omim.org/clinicalSynopsis/300257Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Variants in this GENE are reported as part of current diagnostic practice
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Comment when marking as ready: Danon disease (HCM)Created: 14 Feb 2016, 4:27 p.m.
Source South West GLH was added to LAMP2. Mode of inheritance for gene LAMP2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Source London South GLH was added to LAMP2.
This gene has been classified as Red List (Low Evidence).
LAMP2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Emory Genetics Laboratory