IMPDH2:Ensemblv90

inosine monophosphate dehydrogenase 2
OMIM: 146691, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green IMPDH2 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), IMPDH2-related

Green IMPDH2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with dystonia

Green IMPDH2 in Dystonia - complex


Level 2: Neurology and neurodevelopmental disorders
Version 0.290

Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with dystonia

    Green IMPDH2 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Neurodevelopmental disorder with dystonia