Dilated Cardiomyopathy
Gene: LAMA4
PMID 17646580: 1 individual with Arg1073Ter (diagnosed at age 29; 5 hets in gnomAD) and 2 with Pro943Leu (diagnosed at ages 53 and 68; 4 hets in gnomAD) reported with DCM. Immunohistochemistry on myocardial biopsy samples revealed a loss of endothelial cells in all patients (more significant in the Arg1073Ter individual).
PMID 26406308: 1 individual reported but the variant has 1423 hets and 41 homs in gnomAD
PMID 27532257: 6 variants reported as VUS in a very large cohort (26 hets, 92 hets, 3 hets, 12 hets, Absent).
No really convincing reports when you take into account gnomAD frequency. Red in PanelApp GEL Dilated Cardiomyopathy and conduction defects panel.Created: 5 Aug 2020, 6:25 a.m. | Last Modified: 5 Aug 2020, 6:25 a.m.
Panel Version: 0.67
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, dilated, 1JJ (MIM#615235)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: lama4 has been classified as Red List (Low Evidence).
Phenotypes for gene: LAMA4 were changed from to Cardiomyopathy, dilated, 1JJ (MIM#615235)
Publications for gene: LAMA4 were set to
Mode of inheritance for gene: LAMA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: lama4 has been classified as Red List (Low Evidence).
Tag disputed tag was added to gene: LAMA4.
gene: LAMA4 was added gene: LAMA4 was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LAMA4 was set to Unknown