PDPR

pyruvate dehydrogenase phosphatase regulatory subunit
Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red PDPR in Pyruvate dehydrogenase (PDH) deficiency


Level 2: Mitochondrial
Version 1.38
Latest signed off version: v1.2 (17 Feb 2020)

review Unknown
Sources
  • Expert Review Red
  • NHS GMS
Red PDPR in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)
Red PDPR 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 Unknown
    Sources
    • Expert Review Red
    • London North GLH
    • NHS GMS
    Phenotypes
    • Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)
    Red PDPR in Possible mitochondrial disorder - nuclear genes


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

    review Unknown
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • None
    Red PDPR 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 Red
    • Expert Review
    • Literature
    Red PDPR in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH