GET4:Ensemblv90

golgi to ER traffic protein 4
OMIM: 612056, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red GET4 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.80

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • ?Congenital disorder of glycosylation,, type IIy MIM#620200

    Red GET4 in Mendeliome


    Version 1.3802

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • ?Congenital disorder of glycosylation,, type IIy MIM#620200

    Red GET4 in Congenital Disorders of Glycosylation


    Level 2: Metabolic disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • ?Congenital disorder of glycosylation,, type IIy MIM#620200