PDE12

phosphodiesterase 12
OMIM: 616519, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PDE12 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial disease MONDO:0044970, PDE12-related

Green PDE12 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.970

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial disease MONDO:0044970, PDE12-related

    Green PDE12 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial disease MONDO:0044970, PDE12-related