PanelApp
  1. Genes and Genomic Entities
  2. COPZ1

COPZ1

coatomer protein complex subunit zeta 1
OMIM: 615472, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber COPZ1 in Mendeliome


Version 1.2975

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Severe congenital neutropenia, autosomal recessive, MONDO:0028226, COPZ1-related

Amber COPZ1 in Phagocyte Defects


Level 2: Immunological disorders
Version 1.42

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Severe congenital neutropenia, autosomal recessive, MONDO:0028226, COPZ1-related