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Limb disorders

Gene: NEK1

No list

NEK1 (NIMA related kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000137601
EnsemblGeneIds (GRCh37): ENSG00000137601
OMIM: 604588, Gene2Phenotype
NEK1 is in 13 panels

2 reviews

Eleanor Williams (Genomics England Curator)

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.

Ellen McDonagh (Genomics England Curator)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
  • Other
Phenotypes
  • Short-rib thoracic dysplasia 6 with or without polydactyly 263520
  • Polydactyly
OMIM
604588
Clinvar variants
Variants in NEK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: PMID: 22499340 - the 5 cases r

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: nek1 has been removed from the panel.

2 Dec 2018, Gel status: 0

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Removed was added to NEK1. Rating Changed from Green List (high evidence) to No List (delete)

6 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: nek1 has been classified as Green List (High Evidence).

6 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: nek1 has been classified as Green List (High Evidence).

9 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: nek1 has been classified as Amber List (Moderate Evidence).

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

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

9 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Apr 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NEK1 were set to 22499340; 21211617

9 Apr 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NEK1 were set to 22499340

9 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NEK1 was added to Limb disorders panel. Sources: Other

9 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

NEK1 was created by Ellen McDonagh