ARFGEF3

ARFGEF family member 3
OMIM: 617411, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber ARFGEF3 in Mendeliome


Version 1.4230

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dystonia, MONDO:0044807, ARFGEF3-related

Amber ARFGEF3 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Amber
    • Expert Review Amber
    • Literature
    Phenotypes
    • Dystonia, MONDO:0044807, ARFGEF3-related