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| Congenital Heart Defect v0.447 | WNT11 | Krithika Murali Marked gene: WNT11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.447 | WNT11 | Krithika Murali Gene: wnt11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.447 | WNT11 |
Krithika Murali gene: WNT11 was added gene: WNT11 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: WNT11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT11 were set to PMID: 40200693 Phenotypes for gene: WNT11 were set to Laterality defects; complex congenital heart defects; renal defects Review for gene: WNT11 was set to RED Added comment: PMID: 40200693 report an infant of consanguineous South-East Asian descent with dextrocardia, tetralogy of Fallot and severe bilateral renal hypodysplasia. WES identified a homozygous predicted NMD-escape WNT11 variant c.814delG; p.Glu272Asn*13 variant in the child with both parents confirmed to be heterozygous for this variant. The authors postulate this variant encodes a protein with reduced stability that lost signaling activity in vivo based on functional studies in Xenopus embryos. The proband's mother also has a history of situs inversus totalis and is heterozygous for this variant, the father is unaffected. The authors do not describe any features in the parents of the established bone fragility monoallelic association with this gene (PMID: 34875064). No other individuals with biallelic variants and an associated phenotype were identified through GeneMatcher. Sources: Literature |
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