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Fetal anomalies

Gene: WNT7B

Green List (high evidence)
WNT7B (Wnt family member 7B)
EnsemblGeneIds (GRCh38): ENSG00000188064
EnsemblGeneIds (GRCh37): ENSG00000188064
OMIM: 601967, Gene2Phenotype
WNT7B is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.10
Comment on list classification: New gene added by Julia Baptista. There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Three families reported with fetuses with multiple congenital anomalies (PMID: 35790350). Biallelic variants were identified in probands of two families and parents in third family were both heterozygous for a variant found in one of the other families. Although the fetus was not available for testing, the genotype can be inferred as homozygous for the variant given the consistent phenotype between cases. Supportive zebrafish model supports pathogenicity.
Created: 16 Aug 2022, 12:47 p.m. | Last Modified: 16 Aug 2022, 12:47 p.m.
Panel Version: 1.905
Created: 16 Aug 2022, 12:47 p.m.
Last Modified: 16 Aug 2022, 12:47 p.m.
Panel version: 2.10

Julia Baptista (Faculty of Health, University of Plymouth)

Green List (high evidence)

One homozygous nonsense variant identified in family 1. Compound heterozygous missense and nonsense variants identified in two affected fetuses in family 2. A third family with limited phenotypic information available, with parents heterozygous for the same nonsense variant, p. (Arg98Ter), identified in family 1, but no segregation studies in the affected.
Animal studies in Danio rerio were supportive.
Lung hypoplasia with tracheal, ocular, cardiac, and renal defects.
Sources: Expert Review
Created: 6 Jul 2022, 9:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pulmonary hypoplasia; Diaphragmatic anomalies; Anophthalmia/Microphthalmia; Cardiac defects

Publications

Created: 6 Jul 2022, 9:04 p.m.

Panel version: 1.873

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Pulmonary hypoplasia
  • Diaphragmatic anomalies
  • Anophthalmia/Microphthalmia
  • Cardiac defects
Tags
gene-checked
OMIM
601967
Clinvar variants
Variants in WNT7B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: WNT7B.

30 Jan 2023, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating was removed from gene: WNT7B. Tag Q3_22_NHS_review was removed from gene: WNT7B.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to WNT7B. Source NHS GMS was added to WNT7B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

16 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: wnt7b has been classified as Amber List (Moderate Evidence).

16 Aug 2022, Gel status: 0

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating tag was added to gene: WNT7B. Tag Q3_22_NHS_review tag was added to gene: WNT7B.

6 Jul 2022, Gel status: 0

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

Julia Baptista (Faculty of Health, University of Plymouth)

gene: WNT7B was added gene: WNT7B was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: WNT7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT7B were set to 35790350 Phenotypes for gene: WNT7B were set to Pulmonary hypoplasia; Diaphragmatic anomalies; Anophthalmia/Microphthalmia; Cardiac defects Review for gene: WNT7B was set to GREEN