Rare multisystem ciliopathy disorders
Gene: NEK8EnsemblGeneIds (GRCh38): ENSG00000160602
EnsemblGeneIds (GRCh37): ENSG00000160602
OMIM: 609799, Gene2Phenotype
NEK8 is in 13 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Comment 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.
Penny Clouston (Oxford)
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
Zornitza Stark (Australian Genomics)
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
Alice Gardham (Genomics England)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Orphanet
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- ?Nephronophthisis 9, 613824
- ?Renal-hepatic-pancreatic dysplasia 2, 615415
- Nephronophthisis
- Renal-hepatic-pancreatic dysplasia
- OMIM
- 609799
- Clinvar variants
- Variants in NEK8
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Skeletal dysplasia
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Unexplained kidney failure in young people
- Ductal plate malformation
- DDG2P
- Cystic kidney disease
History Filter Activity
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: NEK8 were set to 18199800; 23418306
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: nek8 has been classified as Green List (High Evidence).
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Alice Gardham (Genomics England)Publications for NEK8 were set to 18199800; 23418306
Upload gene information
Ellen McDonagh (Genomics England Curator)NEK8 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)NEK8 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Upload gene information
Ellen McDonagh (Genomics England Curator)NEK8 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)NEK8 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Upload gene information
Ellen McDonagh (Genomics England Curator)NEK8 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene NEK8 were set to ?Nephronophthisis 9, 613824;?Renal-hepatic-pancreatic dysplasia 2, 615415
Added New Source
Ellen McDonagh (Genomics England Curator)NEK8 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)NEK8 was created by ellenmcdonagh