Primary ciliary disorders
Gene: WDR35
WDR35 (WD repeat domain 35)
EnsemblGeneIds (GRCh38): ENSG00000118965
EnsemblGeneIds (GRCh37): ENSG00000118965
OMIM: 613602, Gene2Phenotype
WDR35 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000118965
EnsemblGeneIds (GRCh37): ENSG00000118965
OMIM: 613602, Gene2Phenotype
WDR35 is in 17 panels
2 reviews
Ian Berry (Leeds Genetics Laboratory)
Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.Created: 8 Dec 2015, 5:33 p.m.
Phenotypes
ciliopathies
Hannah Mitchison (UCL and GOSH)
This is a ciliopathy but not a Primary Ciliary Disorder gene and should be removed from the panelCreated: 8 Dec 2015, 4:25 p.m.
Phenotypes
ciliopathies
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- ciliopathies
- OMIM
- 613602
- Clinvar variants
- Variants in WDR35
- Penetrance
- Complete
- Panels with this gene
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Ectodermal dysplasia
- Skeletal ciliopathies
- Skeletal dysplasia
- Clefting
- Osteogenesis imperfecta
- Intellectual disability
- Ductal plate malformation
- Ectodermal dysplasia without a known gene mutation
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- DDG2P
- Limb disorders
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Fetal anomalies
History Filter Activity
16 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)WDR35 was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory