1. Genes and Genomic Entities
  2. IDH3A

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 3.106
Latest signed off version: v3.105 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 90, OMIM:619007
  • retinitis pigmentosa 90, MONDO:0033563
Tags
  • Q2_23_promote_green
  • Q3_23_NHS_review
Green IDH3A in Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 6.4
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Retinitis pigmentosa 90, OMIM:619007
    • retinitis pigmentosa 90, MONDO:0033563
    Green IDH3A in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.4
    Latest signed off version: v5.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Retinitis pigmentosa 90, OMIM:619007
    • retinitis pigmentosa 90, MONDO:0033563