Rare multisystem ciliopathy disorders
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
Publications for gene: NEK8 were set to 18199800; 23418306
Gene: nek8 has been classified as Green List (High Evidence).
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for NEK8 were set to 18199800; 23418306
NEK8 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
NEK8 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
NEK8 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
NEK8 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
NEK8 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene NEK8 were set to ?Nephronophthisis 9, 613824;?Renal-hepatic-pancreatic dysplasia 2, 615415
NEK8 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
NEK8 was created by ellenmcdonagh