PRKG1

protein kinase, cGMP-dependent, type I
OMIM: 176894, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red PRKG1 in Pneumothorax - familial


Level 2: Respiratory
Version 3.6
Latest signed off version: v3.0 (22 Mar 2023)

review Not set
Sources
  • NHS GMS
Red PRKG1 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.123

review Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Enzyme Disorder
Green PRKG1 in Thoracic aortic aneurysm or dissection (GMS)


Level 2: Cardiology
Version 4.5
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • South West GLH
  • London South GLH
  • South West GLH
  • London South GLH
Phenotypes
  • Aortic aneurysm, familial thoracic 8, 615436
Green PRKG1 in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.129

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Aortic aneurysm, familial thoracic 8, 615436