Previous cardiomyopathies - including childhood onset
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 2017 - 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/300257. Takahashi Ann Neurol. 2002 Jul;52(1):122-5: two symptomatic children (6 or 7 year old) with a variant which is not identified in mother.Created: 25 Mar 2019, 4:27 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)
Variants in this GENE are reported as part of current diagnostic practice
Source London South GLH was added to LAMP2.
Source South West GLH was added to LAMP2.
Eleanor Williams: Comment on publications: Addin
Added phenotypes syndromic HCM for gene: LAMP2
gene: LAMP2 was added gene: LAMP2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green 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 Danon disease