1. Genes and Genomic Entities
  2. NEK8

NEK8

NIMA related kinase 8
OMIM: 609799, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Red NEK8 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.24

review Not set
Sources
  • Emory Genetics Laboratory
No list NEK8 in Ductal plate malformation


Version 1.31

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • ?Nephronophthisis 9 (613824)
  • Renal-hepatic-pancreatic dysplasia 2 (615415)
Tags
  • curated_removed
Red NEK8 in Tubulointerstitial kidney disease


Level 2: Renal
Version 3.15
Latest signed off version: v3.5 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • ?Nephronopthisis 9 MIM 613824
    Green NEK8 in Cystic kidney disease


    Level 2: Renal
    Version 8.5
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Unexplained young onset end-stage renal disease

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert
    Phenotypes
    • Polycystic kidney disease 8, OMIM:620903
    • polycystic kidney disease, MONDO:0020642
    • ?Nephronophthisis 9, OMIM:613824
    Red NEK8 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.124

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Expert
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease
    • ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415
    Red NEK8 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.56

    		review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    Red NEK8 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Emory Genetics Laboratory
    Red NEK8 in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.181

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415
    Green NEK8 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • ?Nephronophthisis 9, OMIM:613824
    • Nephronophthisis 9, MONDO:0013444
    • Renal-hepatic-pancreatic dysplasia 2, OMIM:615415
    • Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174
    Green NEK8 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 615415
    • NEPHRONOPHTHISIS 9 613824
    Green NEK8 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		review 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
    Green NEK8 in Renal ciliopathies


    Level 2: Renal
    Version 4.7
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Emory Genetics Laboratory
    • Expert Review Green
    Phenotypes
    • Renal-hepatic-pancreatic dysplasia
    • ?Renal-hepatic-pancreatic dysplasia 2, 615415
    • Nephronophthisis
    • ?Nephronophthisis 9, 613824
    Red NEK8 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH