PCK2

phosphoenolpyruvate carboxykinase 2, mitochondrial
OMIM: 614095, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PCK2 in Mendeliome


Version 2.0

3 reviews 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 Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

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

Amber PCK2 in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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