| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pulmonary Fibrosis_Interstitial Lung Disease v1.8 | PTPN2 | Bryony Thompson Marked gene: PTPN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v1.8 | PTPN2 | Bryony Thompson Gene: ptpn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v1.8 | PTPN2 | Bryony Thompson Classified gene: PTPN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v1.8 | PTPN2 | Bryony Thompson Gene: ptpn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v1.7 | PTPN2 |
Bryony Thompson gene: PTPN2 was added gene: PTPN2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature Mode of inheritance for gene: PTPN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPN2 were set to 41545210; 39028869; 39959585 Phenotypes for gene: PTPN2 were set to Inborn error of immunity, MONDO:0003778 Review for gene: PTPN2 was set to GREEN gene: PTPN2 was marked as current diagnostic Added comment: 3 cases (2 de novo and 1 likely de novo but father unavailable for testing) with interstitial lung disease as a feature of the phenotype. Variants are associated with reduced PTPN2 expression. Sources: Literature |
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