COG2:Ensemblv90

component of oligomeric golgi complex 2
OMIM: 606974, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red COG2 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
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type IIq (MIM# 617395)

    Red COG2 in Mendeliome


    Version 1.3802

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type IIq (MIM# 617395)

    Red COG2 in Congenital Disorders of Glycosylation


    Level 2: Metabolic disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    Phenotypes
    • Congenital disorder of glycosylation, type IIq (MIM# 617395)