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  3. LAMA3
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Congenital Heart Defect

Gene: LAMA3

Amber List (moderate evidence)
LAMA3 (laminin subunit alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000053747
EnsemblGeneIds (GRCh37): ENSG00000053747
OMIM: 600805, Gene2Phenotype
LAMA3 is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Single study with heterozygous nonsense variants identified in LAMA3 in two families with incomplete penetrance (a trio with one unaffected parent and a family with 2 affected and 1 unaffected carrier). p.Arg1126Ter has 5 hets in gnomAD v2.1 & p.Gln1507Ter has 4 hets in gnomAD v2.1. Variant filtering (including CNV detection algorithms) was conducted on WGS/WES from the trio and 2 affected individuals from the family.
Cardiac phenotypes in carriers of the junctional EB families harbouring LAMA3 pathogenic variants have not been reported. Lama3 +/- mice demonstrated abnormalities in the tricuspid valve and RV, similar to phenotypes observed in human Ebstein’s anomaly. Lama3 -/- mice were embryonic lethal.
Sources: Literature
Created: 4 Sep 2023, 11:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ebstein anomaly MONDO:0009144

Publications

Created: 4 Sep 2023, 11:31 p.m.

Panel version: 0.291

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ebstein anomaly MONDO:0009144
OMIM
600805
Clinvar variants
Variants in LAMA3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lama3 has been classified as Amber List (Moderate Evidence).

4 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lama3 has been classified as Amber List (Moderate Evidence).

4 Sep 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: LAMA3 was added gene: LAMA3 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: LAMA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LAMA3 were set to 37635785 Phenotypes for gene: LAMA3 were set to Ebstein anomaly MONDO:0009144 Review for gene: LAMA3 was set to AMBER