Childhood interstitial lung disease
Gene: COPAEnsemblGeneIds (GRCh38): ENSG00000122218
EnsemblGeneIds (GRCh37): ENSG00000122218
OMIM: 601924, Gene2Phenotype
COPA is in 4 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
COPA has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 26 Jan 2026, 6:34 p.m. | Last Modified: 26 Jan 2026, 6:34 p.m.
Panel Version: 0.5
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #616414) and the OMIM record was last accessed on 30 December 2025.Created: 30 Dec 2025, 7:22 p.m. | Last Modified: 30 Dec 2025, 7:22 p.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Autoinflammation and autoimmunity, systemic, with immune dysregulation 1}, OMIM:616414; autoimmune interstitial lung disease-arthritis syndrome, MONDO:0014629
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- autoimmune interstitial lung disease-arthritis syndrome, MONDO:0014629
- {Autoinflammation and autoimmunity, systemic, with immune dysregulation 1}, OMIM:616414
- OMIM
- 601924
- Clinvar variants
- Variants in COPA
- Penetrance
- None
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: COPA was added gene: COPA was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: COPA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COPA were set to autoimmune interstitial lung disease-arthritis syndrome, MONDO:0014629; {Autoinflammation and autoimmunity, systemic, with immune dysregulation 1}, OMIM:616414