Unexplained young onset end-stage renal disease
Gene: DYNC2H1
Include on the Unexplained paediatric onset end-stage renal disease panel. Review from Moin Saleem and Caroline Platt, University of Bristol.Created: 25 Sep 2019, 10:58 a.m. | Last Modified: 25 Sep 2019, 10:58 a.m.
Panel Version: 0.42
Green on the Renal ciliopathies/Cystic renal disease panel.Created: 25 Sep 2019, 10:56 a.m. | Last Modified: 25 Sep 2019, 10:56 a.m.
Panel Version: 0.41
Phenotypes for gene: DYNC2H1 were changed from Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel; Short-rib thoracic dysplasia 3 with or without polydactyly, 613091; Short-rib thoracic dysplasia 3 with or without polydactyly; Jeune syndrome to Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
gene: DYNC2H1 was added gene: DYNC2H1 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYNC2H1 were set to Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel; Short-rib thoracic dysplasia 3 with or without polydactyly, 613091; Short-rib thoracic dysplasia 3 with or without polydactyly; Jeune syndrome