GRK2

G protein-coupled receptor kinase 2
OMIM: 109635, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber GRK2 in Skeletal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.21
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Jeune syndrome, MONDO:0018770