PanelApp (staging)
  1. Genes and Genomic Entities
  2. PCK1

PCK1

phosphoenolpyruvate carboxykinase 1
OMIM: 614168, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green PCK1 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680
  • Disorders of gluconeogenesis

Green PCK1 in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.48

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680
    • Disorders of gluconeogenesis