Polydactyly
Gene: WNT7AEnsemblGeneIds (GRCh38): ENSG00000154764
EnsemblGeneIds (GRCh37): ENSG00000154764
OMIM: 601570, Gene2Phenotype
WNT7A is in 9 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple families reported, the two conditions probably part of same spectrum rather than distinct.Created: 23 Dec 2024, 12:32 a.m. | Last Modified: 23 Dec 2024, 12:32 a.m.
Panel Version: 0.280
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Santos syndrome, MIM# 613005; Fuhrmann syndrome 228930
Anand Vasudevan (Royal Women's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Santos syndrome, MIM# 613005
- Fuhrmann syndrome 228930
- OMIM
- 601570
- Clinvar variants
- Variants in WNT7A
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wnt7a has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: WNT7A were changed from to Santos syndrome, MIM# 613005; Fuhrmann syndrome 228930
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: WNT7A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: WNT7A was added gene: WNT7A was added to Polydactyly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WNT7A was set to Unknown