| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pulmonary Fibrosis_Interstitial Lung Disease v0.184 | HMOX1 | Zornitza Stark Marked gene: HMOX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.184 | HMOX1 | Zornitza Stark Gene: hmox1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.184 | HMOX1 | Zornitza Stark Classified gene: HMOX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.184 | HMOX1 | Zornitza Stark Gene: hmox1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.183 | HMOX1 |
Zornitza Stark gene: HMOX1 was added gene: HMOX1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature Mode of inheritance for gene: HMOX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMOX1 were set to 38178812; 33066778 Phenotypes for gene: HMOX1 were set to Heme oxygenase-1 deficiency, MIM# 614034 Review for gene: HMOX1 was set to AMBER Added comment: PMID 33066778 and PMID 38178812 report 2 unrelated families (2 individuals) with biallelic HMOX1 loss‑of‑function variants presenting with childhood‑onset interstitial lung disease, hyperinflammation, haemophagocytic flares and multi‑system involvement. Sources: Literature |
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