Hand and foot malformations
Gene: WNT5A

WNT5A (Wnt family member 5A)
EnsemblGeneIds (GRCh38): ENSG00000114251
EnsemblGeneIds (GRCh37): ENSG00000114251
OMIM: 164975, Gene2Phenotype
WNT5A is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 8 unrelated families reported, functional data including mouse model.
Created: 27 Oct 2020, 10:20 p.m. | Last Modified: 27 Oct 2020, 10:20 p.m.

Panel Version: 0.5150

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Robinow syndrome, autosomal dominant 1, MIM#180700

Publications

Created: 27 Oct 2020, 10:20 p.m.
Last Modified: 27 Oct 2020, 10:20 p.m.
Panel version: Imported from Mendeliome panel version 0.5150

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert list
Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Robinow syndrome, autosomal dominant 1 180700

OMIM

164975

Clinvar variants

Variants in WNT5A

Penetrance

None

Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: WNT5A was added gene: WNT5A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: WNT5A were set to Robinow syndrome, autosomal dominant 1 180700

Hand and foot malformations Gene: WNT5A