IDH3G

isocitrate dehydrogenase 3 (NAD(+)) gamma
OMIM: 300089, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green IDH3G in Mendeliome


Version 1.4215

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa 99, MIM# 301148

Green IDH3G in Mitochondrial disease


Level 2: Metabolic disorders
Version 1.12

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Retinitis pigmentosa 99, MIM# 301148

    Green IDH3G in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 0.238

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Retinitis pigmentosa 99, MIM# 301148