Renal ciliopathies

Gene: NEK1

No list

NEK1 (NIMA related kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000137601
EnsemblGeneIds (GRCh37): ENSG00000137601
OMIM: 604588, Gene2Phenotype
NEK1 is in 17 panels

1 review

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

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