IDH3A

isocitrate dehydrogenase 3 (NAD(+)) alpha
OMIM: 601149, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green IDH3A in Mendeliome


Version 1.4215

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 90, MIM#619007

Green IDH3A in Mitochondrial disease


Level 2: Metabolic disorders
Version 1.12

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Retinitis pigmentosa 90, MIM#619007

    Green IDH3A in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 0.238

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • NHS GMS
    Phenotypes
    • Retinitis pigmentosa, MIM#619007
    • Leber congenital amaurosis