Renal ciliopathies
Gene: NEK8Comment on publications: added Publications suggested by external reviewers to support gene-disease association and rating of this gene to Green.Created: 1 Oct 2018, 1:49 p.m.
Comment on list classification: Changed status from Red to Green. Publications suggested by external reviews support gene-disease association and rating of this gene to GreenCreated: 1 Oct 2018, 1:47 p.m.
To date 9 cases described in 5 reports in the literature. Many predicted to disrupt the RCC1 domain; mouse model with variant in this domain.Created: 17 Sep 2018, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Please note 5 additional cases in this publication.Created: 7 Aug 2018, 4:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mutations only identified in one case of nephronophthisis and in one set of siblings with renal-hepatic dyplasiaCreated: 19 Jan 2017, 3:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Nephronophthisis 9 613824; ?Renal-hepatic-pancreatic dysplasia 2 615415
Publications
gene: NEK8 was added gene: NEK8 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK8 were set to 18199800; 26967905; 26862157; 26697755; 23418306 Phenotypes for gene: NEK8 were set to Renal-hepatic-pancreatic dysplasia; ?Renal-hepatic-pancreatic dysplasia 2, 615415; Nephronophthisis; ?Nephronophthisis 9, 613824