IDH3A

isocitrate dehydrogenase 3 (NAD(+)) alpha
OMIM: 601149, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber IDH3A in Possible mitochondrial disorder - nuclear genes


Version 1.94
Latest signed off version: v1.17 (11 Nov 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Infantile encephalopathy
  • Retinitis pigmentosa with macular pseudocoloboma

Amber IDH3A in Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 2.117
Latest signed off version: v2.4 (17 Feb 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Retinitis pigmentosa with macular pseudocoloboma
    • Infantile encephalopathy

    Green IDH3A in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.285
    Latest signed off version: v2.195 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Retinitis Pigmentosa
    • Pseudocoloboma