Rare multisystem ciliopathy disorders
Gene: DYNC2H1Comment when marking as ready: Offered on GOS ciliopathy panelCreated: 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.
Phenotypes for gene: DYNC2H1 were changed from Short-rib thoracic dysplasia 3 with or without polydactyly, 613091; Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel; Jeune syndrome; Short-rib thoracic dysplasia 3 with or without polydactyly to Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
DYNC2H1 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
DYNC2H1 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
DYNC2H1 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Phenotypes for gene DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly, 613091;Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel
DYNC2H1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
DYNC2H1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly, 613091
DYNC2H1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
DYNC2H1 was created by ellenmcdonagh