ERGIC1

endoplasmic reticulum-golgi intermediate compartment 1
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ERGIC1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.427

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Arthrogryposis multiplex congenita 2, neurogenic type
    • OMIM # 208100

    Green ERGIC1 in Mendeliome


    Version 1.3512

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Arthrogryposis multiplex congenita 2, neurogenic type
    • OMIM # 208100

    Green ERGIC1 in Fetal anomalies


    Version 1.465

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Arthrogryposis multiplex congenita 2, neurogenic type
    • OMIM # 208100