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  2. Congenital diaphragmatic hernia
  3. WNT7B
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Congenital diaphragmatic hernia

Gene: WNT7B

Green List (high evidence)
WNT7B (Wnt family member 7B)
EnsemblGeneIds (GRCh38): ENSG00000188064
EnsemblGeneIds (GRCh37): ENSG00000188064
OMIM: 601967, Gene2Phenotype
WNT7B is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families reported with fetuses with multiple congenital anomalies and bi-allelic LoF variants. Two of the families had at the same variant. Supportive zebrafish model.
Sources: Literature
Created: 14 Jul 2022, 1:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome; Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related

Publications

Created: 14 Jul 2022, 1:20 a.m.

Panel version: 1.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome
  • Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related
OMIM
601967
Clinvar variants
Variants in WNT7B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wnt7b has been classified as Green List (High Evidence).

14 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wnt7b has been classified as Green List (High Evidence).

14 Jul 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WNT7B was added gene: WNT7B was added to Congenital diaphragmatic hernia. Sources: Literature 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 and Cardiac defects syndrome; Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related Review for gene: WNT7B was set to GREEN