PCK2

phosphoenolpyruvate carboxykinase 2, mitochondrial
OMIM: 614095, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red PCK2 in Genomic imprinting


Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Literature
Amber PCK2 in Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.168
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • PEPCK deficiency, mitochondrial, OMIM:261650
    • Abnormal gait
    • peripheral neuropathy