Retinal disorders
Gene: NEK2

NEK2 (NIMA related kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000117650
EnsemblGeneIds (GRCh37): ENSG00000117650
OMIM: 604043, Gene2Phenotype
NEK2 is in 1 panel

3 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Red List (low evidence)

one report, not confirmed - dubious
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.

Panel Version: 1.159

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:06 a.m.

Created: 2 Jun 2016, 8:06 a.m.

Panel version: 0.201

Simon Ramsden (NHS)

Red List (low evidence)

Included in diagnostic panel on basis of a single published association with this gene. However not a proven link and not replicated. In my opinion this does not warrant inclusion.
Created: 1 Jun 2016, 10:36 a.m.

Publications

PMID: 24043777

Variants in this GENE are reported as part of current diagnostic practice

Created: 1 Jun 2016, 10:36 a.m.

Panel version: 0.173

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

?Retinitis pigmentosa 67, 615565

OMIM

604043

Clinvar variants

Variants in NEK2

Penetrance

Complete

Panels with this gene

Retinal disorders

History Filter Activity

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NEK2.

1 Jun 2016, Gel status: 1