PanelApp (test)
  1. Genes and Genomic Entities
  2. PPCS

PPCS

phosphopantothenoylcysteine synthetase
OMIM: 609853, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red PPCS in Dilated Cardiomyopathy


Level 2: Cardiovascular disorders
Version 1.33

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Cardiomyopathy, dilated, 2C, MIM# 618189

    Green PPCS in Mendeliome


    Version 1.1902

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, dilated, 2C, MIM# 618189

    Green PPCS in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.927

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cardiomyopathy, dilated, 2C, MIM# 618189

    Green PPCS in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Cardiomyopathy, dilated, 2C, 618189