Renal ciliopathies

Gene: NEK1

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

• 21211617
• 22499340
• 25492405
• 28123176

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