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| Congenital Heart Defect v0.424 | WDR47 | Bryony Thompson Marked gene: WDR47 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.424 | WDR47 | Bryony Thompson Gene: wdr47 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.424 | WDR47 |
Bryony Thompson gene: WDR47 was added gene: WDR47 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: WDR47 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR47 were set to 35474353; 39609633 Phenotypes for gene: WDR47 were set to Congenital heart disease MONDO:0005453 Review for gene: WDR47 was set to RED Added comment: A rare assumed de novo heterozygous variant (NM_014969.5:c.2056G>A p.(Val686Ile) - 10 hets in gnomAD v4.1) detected in a case with heterotaxy including AVCD, vena azygos continuation, artery lusoria, truncus bicaroticus and polysplenia. Screening of exams for 2,019 individuals with situs inversus totalis, heterotaxy, or isolated CHD detected 2 additional individuals with monoallelic rare missense variants. No functional assays or other supporting evidence. All variants are VUS. In a recent publication of biallelic variants associated with a complex neurodevelopmental syndrome, heterozygous carriers had no phenotype. Sources: Literature |
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