NOS3

nitric oxide synthase 3
OMIM: 163729, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber NOS3 in Mendeliome


Version 1.4216

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Moyamoya disease 8, MIM# 621469

Amber NOS3 in Stroke


Level 2: Neurology and neurodevelopmental disorders
Version 1.46

4 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • {Ischemic stroke, susceptibility to} MIM#601367
  • Moyamoya disease, MONDO:0016820

Amber NOS3 in Cerebral vascular malformations


Level 2: Neurology and neurodevelopmental disorders
Version 1.12

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • Vascular Malformations SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Moyamoya disease 8, MIM# 621469