Polydactyly
Gene: WDR35

WDR35 (WD repeat domain 35)
EnsemblGeneIds (GRCh38): ENSG00000118965
EnsemblGeneIds (GRCh37): ENSG00000118965
OMIM: 613602, Gene2Phenotype
WDR35 is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Likely a spectrum of severity, no genotype-phenotype correlation.
Created: 7 Apr 2021, 8:33 p.m. | Last Modified: 7 Apr 2021, 8:33 p.m.

Panel Version: 0.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cranioectodermal dysplasia 2, MIM#613610; MONDO:0013323; Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091; MONDO:0013569

Publications

Created: 7 Apr 2021, 8:33 p.m.
Last Modified: 7 Apr 2021, 8:33 p.m.
Panel version: 0.188

Anand Vasudevan (Royal Women's Hospital)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 21 Jul 2020, 4:23 a.m.
Last Modified: 21 Jul 2020, 4:23 a.m.
Panel version: 0.36

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cranioectodermal dysplasia 2, MIM#613610
MONDO:0013323
Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091
MONDO:0013569

OMIM

613602

Clinvar variants

Variants in WDR35

Penetrance

None

Publications

Panels with this gene