NIT1

nitrilase 1
OMIM: 604618, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green NIT1 in Mendeliome


Version 1.4216

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Brain small vessel disease 4, MIM# 621313

Green NIT1 in Dystonia and Chorea


Level 2: Neurology and neurodevelopmental disorders
Version 0.337

Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    • Literature
    Phenotypes
    • Brain small vessel disease 4, MIM# 621313

    Green NIT1 in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.46

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Brain small vessel disease 4, MIM# 621313