Renal ciliopathies

Gene: WDR35

Green List (high evidence)

WDR35 (WD repeat domain 35)
EnsemblGeneIds (GRCh38): ENSG00000118965
EnsemblGeneIds (GRCh37): ENSG00000118965
OMIM: 613602, Gene2Phenotype
WDR35 is in 20 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Mutations identified in 2 families with cranioectodermal dysplasia and two families with short-rib thoracic dysplasia. Both recognised on G2P. Testing offered on GOS ciliopathy panel
Created: 19 Jan 2017, 3:41 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Cranioectodermal dysplasia 2, 613610
  • Cranioectodermal dysplasia
  • Short-rib thoracic dysplasia 7 with or without polydactyly
  • Short-rib thoracic dysplasia 7 with or without polydactyly, 614091
OMIM
613602
Clinvar variants
Variants in WDR35
Penetrance
None
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: WDR35 was added gene: WDR35 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR35 were set to Cranioectodermal dysplasia 2, 613610; Cranioectodermal dysplasia; Short-rib thoracic dysplasia 7 with or without polydactyly; Short-rib thoracic dysplasia 7 with or without polydactyly, 614091