Renal ciliopathiesGene: WDR35
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.
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