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  2. Pulmonary Fibrosis_Interstitial Lung Disease
  3. COPA
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Pulmonary Fibrosis_Interstitial Lung Disease

Gene: COPA

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

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Over 10 unrelated families reported.
Well-established gene-disease association.
Sources: Expert list
Created: 4 Jul 2024, 3:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Jul 2024, 3:31 a.m.

Panel version: 0.55

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Autoimmune interstitial lung, joint, and kidney disease, MIM# 616414
OMIM
601924
Clinvar variants
Variants in COPA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: copa has been classified as Green List (High Evidence).

7 Jul 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COPA were changed from COPA syndrome - autoimmune disorder associated with childhood interstitial lung disease and pulmonary haemorrhage, arthritis, and kidney disease to Autoimmune interstitial lung, joint, and kidney disease, MIM# 616414

4 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: copa has been classified as Green List (High Evidence).

4 Jul 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: COPA was added gene: COPA was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list Mode of inheritance for gene: COPA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COPA were set to PMID: 27048656, 30385646, 30804679, 29977900 Phenotypes for gene: COPA were set to COPA syndrome - autoimmune disorder associated with childhood interstitial lung disease and pulmonary haemorrhage, arthritis, and kidney disease Review for gene: COPA was set to GREEN gene: COPA was marked as current diagnostic