PPCS

phosphopantothenoylcysteine synthetase
OMIM: 609853, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green PPCS in Paediatric or syndromic cardiomyopathy


Version 3.47
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Cardiomyopathy, dilated, 2C, 618189