PanelApp (stage)
  1. Genes and Genomic Entities
  2. PCK2

PCK2

phosphoenolpyruvate carboxykinase 2, mitochondrial
OMIM: 614095, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber PCK2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • PEPCK deficiency, mitochondrial - MIM#261650
  • peripheral neuropathy (MONDO#0005244), PCK2-related

Amber PCK2 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.48

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Peripheral neuropathy (MONDO#0005244), PCK2-related