Limb disorders
Gene: NEK1Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 11:08 p.m.
Comment on list classification: Rating this gene as green as there are > 3 cases where the patients show polydactyly/polysyndactyly.Created: 6 Nov 2018, 4:51 p.m.
Genomics England clinical team notes - Not primarily limb - short rib +/- polydactyly (ciliopathy). On ciliopathy, skeletal dysplasia, clefting and thoracic dystrophies panels alreadyCreated: 9 Sep 2018, 5:50 p.m.
Comment on list classification: Rated Amber after review by Genomics England clinical teamCreated: 9 Sep 2018, 5:50 p.m.
Comment on list classification: Promoted this gene to green due to more than 3 cases (this is a Green gene for this phenotype on other panels), and all cases in the two publications have polydactyly/polysyndactyly.Created: 9 Apr 2018, 11:21 a.m.
Comment on publications: PMID: 21211617 All affected individuals had a narrow thorax with hypoplastic lungs, extreme polysyndactyly, dysproportionate dwarfism, and median cleft lip and palate.Created: 9 Apr 2018, 11:19 a.m.
PMID: 22499340 - the 5 cases reported with a NEK1 variant had polydactyly and/or polysyndactyly.Created: 9 Apr 2018, 11:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 6 with or without polydactyly 263520
Tag curated_removed tag was added to gene: NEK1.
Ellen McDonagh: PMID: 22499340 - the 5 cases r
Gene: nek1 has been removed from the panel.
Source Expert Review Removed was added to NEK1. Rating Changed from Green List (high evidence) to No List (delete)
Gene: nek1 has been classified as Green List (High Evidence).
Gene: nek1 has been classified as Green List (High Evidence).
Gene: nek1 has been classified as Amber List (Moderate Evidence).
Victorian Clinical Genetics Services was added to NEK1. Panel: Limb disorders Phenotypes for gene NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly 263520, Polydactyly
This gene has been classified as Green List (High Evidence).
Publications for NEK1 were set to 22499340; 21211617
Publications for NEK1 were set to 22499340
NEK1 was added to Limb disorders panel. Sources: Other
NEK1 was created by Ellen McDonagh