IDH3B

isocitrate dehydrogenase 3 (NAD(+)) beta
OMIM: 604526, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red IDH3B in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Red IDH3B in Likely inborn error of metabolism - targeted testing not possible


Version 4.131
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review Unknown
    Sources
    • Expert Review Red
    Amber IDH3B in Possible mitochondrial disorder - nuclear genes


    Version 3.89
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Retinitis pigmentosa 46, 612572
    Amber IDH3B in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.159
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Retinitis pigmentosa 46, 612572
    Green IDH3B in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.71
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Eye Disorders
    • Retinitis pigmentosa 46, 612572
    • Retinitis pigmentosa
    • Retinitis Pigmentosa, Recessive
    Red IDH3B in Structural eye disease


    Version 3.74
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Retinitis pigmentosa 46, 612572
    • Eye Disorders