HIBADH

3-hydroxyisobutyrate dehydrogenase
OMIM: 608475, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red HIBADH in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Organic aciduria

Red HIBADH 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 Red
    • Literature
    Phenotypes
    • organic aciduria

    Red HIBADH in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.128

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • ClinGen
    Phenotypes
    • 3-hydroxyisobutyric aciduria MONDO:0009371