Genomics England
GMS Panels
Panels
Genes and Entities

COPA

coatomer protein complex subunit alpha
OMIM: 601924
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Autoimmune inflammatoy arthritis and interstial lung disease, 616414, Autoimmune interstitial lung disease-arthritis syndrome, COPA syndrome, Autoimmune inflammatory arthritis and interstitial lung disease with Th17 dysregulation and autoantibody production, Autoinflammatory Disorders