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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 3 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

Now new publications since last PanelApp review Sept 2021

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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.
Sources: Literature
Created: 16 Feb 2022, 1:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal agenesis/hypoplasia/dysplasia, no OMIM #

Publications

Created: 16 Feb 2022, 1:17 a.m.

Panel version: 0.3541

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Renal agenesis/hypoplasia/dysplasia, no OMIM #
OMIM
602864
Clinvar variants
Variants in WNT9B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Feb 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

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, no OMIM # Review for gene: WNT9B was set to AMBER