IDH3G

isocitrate dehydrogenase 3 (NAD(+)) gamma
OMIM: 300089, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green IDH3G in Retinal disorders


Level 2: Ophthalmology
Version 8.100
Latest signed off version: v8.0 (30 Apr 2025)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Retinitis pigmentosa 99, OMIM:301148, retinitis pigmentosa 99, MONDO:0978291