Rare multisystem ciliopathy disorders
Gene: NEK1Comment on mode of inheritance: Changed to 'biallelic' to capture.Created: 3 Apr 2017, 4:48 p.m.
Comment when marking as ready: Recognised on G2P. Many case reports. On GOS ciliopathy panelCreated: 19 Jan 2017, 3:17 p.m.
Comment on mode of inheritance: Biallelic. One report of digenic inheritance with DYNC2H1 also reportedCreated: 19 Jan 2017, 3:16 p.m.
Mode of inheritance for NEK1 was changed to BIALLELIC, autosomal or pseudoautosomal
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Green List (High Evidence).
Mode of inheritance for NEK1 was changed to Other - please specifiy in evaluation comments
NEK1 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
NEK1 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
NEK1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
NEK1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, 263520
NEK1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
NEK1 was created by ellenmcdonagh