PCK1:Ensemblv90

phosphoenolpyruvate carboxykinase 1
OMIM: 614168, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PCK1 in Mendeliome


Version 1.3802

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 1.59

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

    Green PCK1 in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 2.0

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