Renal ciliopathies

Gene: NEK1

Amber List (moderate evidence)

NEK1 (NIMA related kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000137601
EnsemblGeneIds (GRCh37): ENSG00000137601
OMIM: 604588, Gene2Phenotype
NEK1 is in 16 panels

2 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: After discussion with the Genomics England clinical team it was decided to rate this gene amber as although there is a renal phenotype there is a more striking skeletal component and having this gene green may create extra noise in renal-only presentations.
Created: 9 Jul 2020, 9:57 p.m. | Last Modified: 9 Jul 2020, 9:57 p.m.
Panel Version: 1.25
Associated with Short-rib thoracic dysplasia 6 with or without polydactyly #263520 (AR, DR) in OMIM. Polycystic kidneys and Glomerular and renal tubular cysts are listed in the clinical phenotypes.

PMID: 21211617 - Thiel et al 2011- cystic kidneys reported in 1 proband from 3 of the described families.
PMID: 22499340 - El Hokayem et al 2012 - renal phenotype reported in probands from 3 out of the 4 families with NEK1 variants
PMID: 25492405 - McInerney-Leo et al 2015 - 1 proband with NEK1 compound het variants - normal kidney ultrasound
PMID: 28123176 - Wang et al 2017 - Abstract only access - 1 case - no report of renal phenotype in abstract
Created: 25 Jun 2020, 11:09 a.m. | Last Modified: 25 Jun 2020, 11:09 a.m.
Panel Version: 1.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

A ciliopathy with a renal phenotype.
Sources: Expert list
Created: 3 Jan 2020, 4:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520

History Filter Activity

9 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

9 Jul 2020, Gel status: 0

Added Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist tag was added to gene: NEK1.

9 Jul 2020, Gel status: 0

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: NEK1 were set to

3 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: NEK1 was added gene: NEK1 was added to Renal ciliopathies. Sources: Expert list Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Review for gene: NEK1 was set to GREEN