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| Paediatric disorders - additional genes v8.36 | WNT7B | Achchuthan Shanmugasundram Classified gene: WNT7B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.36 | WNT7B | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated families reported with pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia, and Cardiac defects (PDAC) syndrome. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.36 | WNT7B | Achchuthan Shanmugasundram Gene: wnt7b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.35 | WNT7B | Achchuthan Shanmugasundram Tag Q4_26_promote_green tag was added to gene: WNT7B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.35 | WNT7B |
Achchuthan Shanmugasundram gene: WNT7B was added gene: WNT7B was added to Paediatric disorders - additional genes. Sources: Literature Mode of inheritance for gene: WNT7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT7B were set to 35790350; 38417950; 41544908 Phenotypes for gene: WNT7B were set to Pulmonary hypoplasia, diaphragmatic anomalies, anophthalmia/microphthalmia, and cardiac defects; pulmonary hypoplasia, MONDO:0800133; microphthalmia, MONDO:0021129 Review for gene: WNT7B was set to GREEN Added comment: PMID:35790350 (2023) reported the identification of biallelic variants in WNT7B in foetuses with PDAC syndrome from two unrelated families. In one family, the foetus was homozygous for the p.Arg98Ter variant whereas the fetuses from the other family were compound heterozygous for the variants p.Tyr75Ter and p.Gly188Ser. Molecular autopsy by proxy in a consanguineous couple that lost two babies due to lung hypoplasia revealed that both parents carry the p.Arg98Ter variant. Bilateral microphthalmia was reported in one, and diaphragmatic anomalies and atrial septal defect was reported in two families. Zebrafish with wnt7bb mutant displayed a defect of the swimbladder, an air-filled organ that is a structural homolog of the mammalian lung. PMID:38417950 (2024) reported three patients from two families that share a novel founder variant in WNT7B (p.Arg247Trp). Microphthalmia was reported in two patients from one family. PMID:41544908 (2026) reported the identification of biallelic novel loss-of-function variants (p.Tyr108Ter and p.Val224Argfs*6) inWNT7B gene in a foetus affected with a typical PDAC spectrum, including pulmonary hypoplasia/agenesis, bilateral microphthalmia, and absence of pulmonary arteries and veins, from a Chinese family. This gene has been associated with relevant phenotypes in Gene2Phenotype (with 'moderate' rating on the DD panel), but not yet in OMIM (records last accessed on 06 November 2026). Sources: Literature |
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