IDH3A:Ensemblv90

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green IDH3A in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 90, MIM#619007

Green IDH3A in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.1299

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Retinitis pigmentosa 90, MIM#619007

    Green IDH3A in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 0.225

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • NHS GMS
    Phenotypes
    • Retinitis pigmentosa, MIM#619007
    • Leber congenital amaurosis

    Green IDH3A in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Retinitis pigmentosa, MIM#619007
    • Leber congenital amaurosis