1. Genes and Genomic Entities
  2. GRK2

GRK2

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber GRK2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.32
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770
Tags
  • Q3_26_promote_green
Amber GRK2 in Skeletal ciliopathies


Level 2: Musculoskeletal
Version 7.10
Latest signed off version: v7.1 (12 Aug 2026)

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