1. Genes and Genomic Entities
  2. PDE12

PDE12

phosphodiesterase 12
OMIM: 616519, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green PDE12 in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.4
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • mitochondrial disease, MONDO:0044970
    Tags
    • gene-checked
    Amber PDE12 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 5.4
    Latest signed off version: v5.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • mitochondrial disease, MONDO:0044970
    Tags
    • Q3_25_promote_green
    • gene-checked
    Amber PDE12 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.10
    Latest signed off version: v7.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • mitochondrial disease, MONDO:0044970
    • Mitochondrial disease, MONDO:0044970
    Tags
    • gene-checked
    Green PDE12 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.4
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • mitochondrial disease, MONDO:0044970
    Tags
    • gene-checked