GRK2

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber GRK2 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.54

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770

Amber GRK2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770

Amber GRK2 in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy


Level 2: Skeletal disorders
Version 1.15

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770

Amber GRK2 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770