Skeletal ciliopathiesGene: IFT80
Comment when marking as ready: At least four identified families. Offered on GOS ciliopathy panel. Recognised on G2P
Created: 19 Jan 2017, 2:54 p.m.
gene: IFT80 was added gene: IFT80 was added to Skeletal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT80 were set to Short-rib thoracic dysplasia 2 with or without polydactyly; Jeune syndrome; Short-rib thoracic dysplasia 2 with or without polydactyly, 611263