Genomics England
GMS Panels
Panels
Genes and Entities

PPCS

phosphopantothenoylcysteine synthetase
OMIM: 609853
PanelMode of inheritanceDetails
1 panel
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, dilated, 2C, 618189