Paediatric disorders - additional genes

Gene: WNT7B

Green List (high evidence)

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.

Created: 6 Nov 2026, 1:49 p.m. | Last Modified: 6 Nov 2026, 1:49 p.m.

Panel Version: 8.36

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

Created: 6 Nov 2026, 1:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pulmonary hypoplasia, diaphragmatic anomalies, anophthalmia/microphthalmia, and cardiac defects; pulmonary hypoplasia, MONDO:0800133; microphthalmia, MONDO:0021129

Publications

• 35790350
• 38417950
• 41544908