| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Heart Defect v0.292 | LAMA3 | Bryony Thompson Marked gene: LAMA3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.292 | LAMA3 | Bryony Thompson Gene: lama3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.292 | LAMA3 | Bryony Thompson Classified gene: LAMA3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.292 | LAMA3 | Bryony Thompson Gene: lama3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.291 | LAMA3 |
Bryony Thompson 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 Added comment: 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 |
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