PDXK

pyridoxal kinase
OMIM: 179020, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PDXK in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Axonal polyneuropathy
  • optic atrophy

Green PDXK in Optic Atrophy


Level 2: Ophthalmological disorders
Version 1.32

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Axonal polyneuropathy
    • optic atrophy

    Green PDXK in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.14

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Axonal polyneuropathy
    • optic atrophy

    Green PDXK in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.46

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy MIM#618511
    • Disorders of pyridoxine metabolism