1. Genes and Genomic Entities
  2. IDH3A

IDH3A

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber IDH3A in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Retinitis pigmentosa 90, OMIM:619007
    • retinitis pigmentosa 90, MONDO:0033563
    Tags
    • Q2_25_ promote_green
    Green IDH3A in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.20
    Latest signed off version: v4.0 (30 Apr 2025)

    		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 Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    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 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

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