NEK9

NIMA related kinase 9
OMIM: 609798, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green NEK9 in Mosaic skin disorders - deep sequencing


Level 2: Dermatology
Version 3.27
Latest signed off version: v3.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Nevus comedonicus, somatic, OMIM:617025
Tags
  • somatic
Green NEK9 in Arthrogryposis


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262
  • Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660
  • Lethal congenital contracture syndrome 10, OMIM:617022
  • NEK9-related lethal skeletal dysplasia, MONDO:0014870
Green NEK9 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 Additional Gene List
Phenotypes
  • ?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262
  • Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660
  • Lethal congenital contracture syndrome 10, OMIM:617022
  • NEK9-related lethal skeletal dysplasia, MONDO:0014870