1. Genes and Genomic Entities
  2. PDE12

PDE12

phosphodiesterase 12
OMIM: 616519, Gene2Phenotype

4 panels

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


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

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 Amber
    • Expert list
    Phenotypes
    • mitochondrial disease, MONDO:0044970
    Tags
    • Q3_25_promote_green
    Amber PDE12 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.20
    Latest signed off version: v4.0 (30 Apr 2025)

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


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

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


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • mitochondrial disease, MONDO:0044970
    Tags
    • Q3_25_promote_green
    • Q3_25_NHS_review