PanelApp (stage)
  1. Genes and Genomic Entities
  2. IDH3B

IDH3B

isocitrate dehydrogenase 3 (NAD(+)) beta
OMIM: 604526, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green IDH3B in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 46, MIM# 612572

Amber IDH3B in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Retinitis pigmentosa 46, MIM# 612572

    Green IDH3B in Retinitis pigmentosa_Autosomal Recessive/X-linked


    Level 2: Ophthalmological disorders
    Version 0.147

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Retinitis pigmentosa 46, 612572