Dilated Cardiomyopathy

Gene: LAMA4

Red List (low evidence)

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

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

History Filter Activity

5 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lama4 has been classified as Red List (Low Evidence).

5 Aug 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LAMA4 were changed from to Cardiomyopathy, dilated, 1JJ (MIM#615235)

5 Aug 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LAMA4 were set to

5 Aug 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LAMA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lama4 has been classified as Red List (Low Evidence).

5 Aug 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: LAMA4.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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