Genomics England
GMS Panels
Panels
Genes and Entities

COPA

coatomer protein complex subunit alpha
OMIM: 601924
PanelMode of inheritanceDetails
3 panels
Green
in Autoinflammatory disorders
R-numbers: R413
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Autoinflammation and autoimmunity, systemic, with immune dysregulation}, OMIM:616414, COPA syndrome
Green
in Childhood interstitial lung disease
R-numbers: R462
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
autoimmune interstitial lung disease-arthritis syndrome, MONDO:0014629, {Autoinflammation and autoimmunity, systemic, with immune dysregulation 1}, OMIM:616414
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 9.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Autoinflammation and autoimmunity, systemic, with immune dysregulation}, OMIM:616414