Renal ciliopathiesGene: WDR19
2 nephronophthisis families identified, at least 8 families with Senior-Loken identified and one patient with short-rib thoracic dysplasia-5. Recognised on G2P and on GOS ciliopathy panel
Created: 19 Jan 2017, 3:39 p.m.
gene: WDR19 was added gene: WDR19 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: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR19 were set to Nephronophthisis 13, 614377; ?Short-rib thoracic dysplasia 5 with or without polydactyly; Senior-Loken syndrome 8, 616307; Cranioectodermal dysplasia; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376; Jeune syndrome; Senior-Loken syndrome; ?Cranioectodermal dysplasia 4, 614378; Nephronophthisis