Congenital Heart Defect

Gene: WDR47

Red List (low evidence)

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

Created: 6 Dec 2024, 12:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart disease MONDO:0005453

Publications

• 35474353
• 39609633