Interstitial Lung Disease
Gene: COPA

COPA (coatomer protein complex subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000122218
EnsemblGeneIds (GRCh37): ENSG00000122218
OMIM: 601924, Gene2Phenotype
COPA is in 4 panels

1 review

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Over 10 unrelated families reported.
Well-established gene-disease association.
Created: 6 Nov 2021, 1:28 a.m. | Last Modified: 6 Nov 2021, 1:28 a.m.

Panel Version: 0.183

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
COPA syndrome - autoimmune disorder associated with childhood interstitial lung disease and pulmonary haemorrhage, arthritis,

Publications

Created: 6 Nov 2021, 1:28 a.m.
Last Modified: 6 Nov 2021, 1:28 a.m.
Panel version: 0.183

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Autoimmune interstitial lung, joint, and kidney disease, MIM# 616414

OMIM

601924

Clinvar variants

Variants in COPA

Penetrance

None

Publications

Panels with this gene