PRKACG

protein kinase cAMP-activated catalytic subunit gamma
OMIM: 176893, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red PRKACG in Bleeding and platelet disorders


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Bleeding disorder, platelet-type, 19, OMIM:616176
  • Platelet-type bleeding disorder 19, MONDO:0014518
Amber PRKACG in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Mitochondrial myopathy with lactic acidosis, 251950