PanelApp
  1. Genes and Genomic Entities
  2. H6PD

H6PD

hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
OMIM: 138090, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber H6PD in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 3.31

Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Parkinson disease MONDO:0005180

    Green H6PD in Mendeliome


    Version 2.362

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cortisone reductase deficiency 1, MIM# 604931

    Green H6PD in Infertility and Recurrent Pregnancy Loss


    Version 2.38

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cortisone reductase deficiency 1, MIM# 604931