IMPDH1

inosine monophosphate dehydrogenase 1
OMIM: 146690, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green IMPDH1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leber congenital amaurosis 11 (MIM# 613837)
  • Retinitis pigmentosa 10 (MIM# 180105)

Green IMPDH1 in Retinitis pigmentosa_Autosomal Dominant


Level 2: Ophthalmological disorders
Version 0.57

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 10, 180105
    • Leber Congenital Amaurosis
    • Leber congenital amaurosis 11

    Amber IMPDH1 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.21

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Leber congenital amaurosis 11, MIM#613837

    Green IMPDH1 in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 0.1

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Disorders of purine metabolism
    • retinitis pigmentosa MONDO:0019200