Dilated Cardiomyopathy
Gene: LAMA4

LAMA4 (laminin subunit alpha 4)
EnsemblGeneIds (GRCh38): ENSG00000112769
EnsemblGeneIds (GRCh37): ENSG00000112769
OMIM: 600133, Gene2Phenotype
LAMA4 is in 5 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

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

Created: 5 Aug 2020, 6:25 a.m.
Last Modified: 5 Aug 2020, 6:25 a.m.
Panel version: 0.67

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Cardiomyopathy, dilated, 1JJ (MIM#615235)

Tags

disputed

OMIM

600133

Clinvar variants

Variants in LAMA4

Penetrance

None

Publications

Panels with this gene