Limb disorders

Gene: NEK1

Comment 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 already

Created: 9 Sep 2018, 5:50 p.m.

Comment on list classification: Rated Amber after review by Genomics England clinical team

Created: 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