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  3. WNT9B
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Fetal anomalies

Gene: WNT9B

Amber List (moderate evidence)
WNT9B (Wnt family member 9B)
EnsemblGeneIds (GRCh38): ENSG00000158955
EnsemblGeneIds (GRCh37): ENSG00000158955
OMIM: 602864, Gene2Phenotype
WNT9B is in 2 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Vicki Harrison (Wessex Clinical Genetics Service)

I don't know

Candidate gene for non-syndromic clefting, and Mayer-Rokitansky-Kuster-Hauser. Two families 1st with 3 sibs (1 bilat renal cystic dysplasia/CKD, 2 deceased with bilat renal hypoplasia/agenesis - all homozygous), 2nd family 4 sibs (1 with bilat renal hypoplasia/CKD homozygous, 2 neonatal deaths 1 with oligohydramios ? tested, 1 unaffected homozygous)
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal agenesis/hypoplasia/dysplasia

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Not yet associated with any phenotype in OMIM or G2P. Rating Amber as to date, only two cases have been reported in one paper but with a watchlist tag to monitor for additional cases.
Created: 9 May 2023, 3:32 p.m. | Last Modified: 9 May 2023, 3:32 p.m.
Panel Version: 3.78
Created: 9 May 2023, 3:32 p.m.
Last Modified: 9 May 2023, 3:32 p.m.
Panel version: 3.78

Zornitza Stark (Australian Genomics)

I don't know

WNT9B plays a key role in the development of the mammalian urogenital system. It is essential for the induction of mesonephric and metanephric tubules, the regulation of renal tubule morphogenesis, and the regulation of renal progenitor cell expansion and differentiation. WNT9B−/− mice have renal agenesis/hypoplasia and reproductive tract abnormalities.

Lemire et al. (2021) report 4 individuals from 2 unrelated consanguineous families with bilateral renal agenesis/hypoplasia/dysplasia and homozygous variants in WNT9B. The proband from Family 1 had bilateral renal cystic dysplasia and chronic kidney disease, with 2 deceased siblings with bilateral renal hypoplasia/agenesis. The 3 affected family members were homozygous for a Gly317Arg missense variant in WNT9B. Proband from Family 2 had renal hypoplasia/dysplasia, chronic kidney disease, and was homozygous for a Pro5Alafs*52 nonsense variant in WNT9B. The proband's unaffected brother is also homozygous for the nonsense variant in WNT9B, suggesting nonpenetrance.

I wasn't sure which panel this is more pertinent to: we have added this gene to our CAKUT panel.
Sources: Literature
Created: 11 Oct 2021, 7:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal agenesis/hypoplasia/dysplasia

Publications

Created: 11 Oct 2021, 7:10 a.m.

Panel version: 1.720

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Renal agenesis/hypoplasia/dysplasia
Tags
watchlist
OMIM
602864
Clinvar variants
Variants in WNT9B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

Added New Source

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to WNT9B.

9 May 2023, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: wnt9b has been classified as Amber List (Moderate Evidence).

9 May 2023, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: WNT9B.

11 Oct 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: WNT9B was added gene: WNT9B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WNT9B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT9B were set to 34145744 Phenotypes for gene: WNT9B were set to Renal agenesis/hypoplasia/dysplasia Review for gene: WNT9B was set to AMBER