Retinal disordersGene: NEK2
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
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.
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.
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to NEK2.
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for NEK2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
NEK2 was created by ellenmcdonagh
NEK2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green