Renal ciliopathiesGene: DYNC2H1
Comment when marking as ready: Offered on GOS ciliopathy panel
Created: 19 Jan 2017, 2:34 p.m.
Comment on list classification: More than 3 cases/families reported. Is a green gene on the Unexplained skeletal dysplasia Version 1.3 gene panel.
Created: 13 Dec 2016, 1:59 p.m.
gene: DYNC2H1 was added gene: DYNC2H1 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly; Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel; Jeune syndrome; Short-rib thoracic dysplasia 3 with or without polydactyly, 613091