GRK2:Ensemblv90

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber GRK2 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.96

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

Amber GRK2 in Mendeliome


Version 1.3802

1 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 1.18

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

Amber GRK2 in Fetal anomalies


Version 1.482

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

Amber GRK2 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
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 2.0

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