GRK2

G protein-coupled receptor kinase 2
OMIM: 109635, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green GRK2 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.99

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

Green GRK2 in Mendeliome


Version 1.4559

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

Green GRK2 in Skeletal Ciliopathies


Level 2: Skeletal disorders
Version 1.23

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

Green GRK2 in Fetal anomalies


Version 1.543

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