| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pulmonary Fibrosis_Interstitial Lung Disease v0.57 | COPA | Zornitza Stark Marked gene: COPA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.57 | COPA | Zornitza Stark Gene: copa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.57 | COPA | Zornitza Stark 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.56 | COPA | Chirag Patel Classified gene: COPA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.56 | COPA | Chirag Patel Gene: copa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.55 | COPA |
Chirag Patel 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 Added comment: Over 10 unrelated families reported. Well-established gene-disease association. Sources: Expert list |
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