PDP2

pyruvate dehyrogenase phosphatase catalytic subunit 2
OMIM: 615499, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red PDP2 in Pyruvate dehydrogenase (PDH) deficiency


Version 1.3
Signed off v.1.2 on 17 Feb 2020

review Unknown
Sources
  • NHS GMS

Red PDP2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.422

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)

Red PDP2 in Inborn errors of metabolism


Version 2.22
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)

    Red PDP2 in Possible mitochondrial disorder - nuclear genes


    Version 1.16
    Signed off v.1.13 on 17 Feb 2020

    review Unknown
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • None

    Red PDP2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.8
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Other