PanelApp (test)
  1. Genes and Genomic Entities
  2. COPZ1:Ensemblv90

COPZ1:Ensemblv90

coatomer protein complex subunit zeta 1
OMIM: 615472, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber COPZ1 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neutropenia, severe congenital, 12, autosomal recessive MIM# 621439

Amber COPZ1 in Phagocyte Defects


Level 2: Immunological disorders
Version 1.45

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neutropenia, severe congenital, 12, autosomal recessive, MIM# 621439

    Amber COPZ1 in Phagocyte Defects


    Level 2: Immunological disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Neutropenia, severe congenital, 12, autosomal recessive, MIM# 621439