Craniosynostosis
Gene: WDR35EnsemblGeneIds (GRCh38): ENSG00000118965
EnsemblGeneIds (GRCh37): ENSG00000118965
OMIM: 613602, Gene2Phenotype
WDR35 is in 15 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia 2, MIM# 613610
Tiong Tan (Victorian Clinical Genetics Services)
Craniosynostosis is a well-established feature of Sensenbrenner/Cranioectodermal dysplasia
Sources: LiteratureCreated: 17 Jun 2020, 1:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CRANIOECTODERMAL DYSPLASIA
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Cranioectodermal dysplasia 2, MIM# 613610
- OMIM
- 613602
- Clinvar variants
- Variants in WDR35
- Penetrance
- Complete
- Publications
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: WDR35 were changed from CRANIOECTODERMAL DYSPLASIA to Cranioectodermal dysplasia 2, MIM# 613610
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: wdr35 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: wdr35 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Tiong Tan (Victorian Clinical Genetics Services)gene: WDR35 was added gene: WDR35 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR35 were set to 20817137; 24123776 Phenotypes for gene: WDR35 were set to CRANIOECTODERMAL DYSPLASIA Penetrance for gene: WDR35 were set to Complete Review for gene: WDR35 was set to GREEN