Skeletal Dysplasia_Fetal
Gene: WDR35
WDR35 (WD repeat domain 35)
EnsemblGeneIds (GRCh38): ENSG00000118965
EnsemblGeneIds (GRCh37): ENSG00000118965
OMIM: 613602, Gene2Phenotype
WDR35 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000118965
EnsemblGeneIds (GRCh37): ENSG00000118965
OMIM: 613602, Gene2Phenotype
WDR35 is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Bi-allelic variants in this gene also cause cranioectodermal dysplasia.Created: 7 Apr 2021, 8:29 p.m. | Last Modified: 7 Apr 2021, 8:29 p.m.
Panel Version: 0.57
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091; MONDO:0013569
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
- OMIM
- 613602
- Clinvar variants
- Variants in WDR35
- Penetrance
- None
- Panels with this gene
-
- Ectodermal Dysplasia
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Skeletal Dysplasia_Fetal
- Craniosynostosis
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: WDR35 was added gene: WDR35 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WDR35 was set to Unknown