| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pulmonary Fibrosis_Interstitial Lung Disease v0.192 | LAMP3 | Zornitza Stark Marked gene: LAMP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.192 | LAMP3 | Zornitza Stark Gene: lamp3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.192 | LAMP3 | Zornitza Stark Classified gene: LAMP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.192 | LAMP3 | Zornitza Stark Gene: lamp3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.191 | LAMP3 |
Zornitza Stark gene: LAMP3 was added gene: LAMP3 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature Mode of inheritance for gene: LAMP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMP3 were set to 40023045; 34161347 Phenotypes for gene: LAMP3 were set to Interstitial lung disease, MONDO:0015925, LAMP3-related Review for gene: LAMP3 was set to AMBER Added comment: PMID 40023045 reports a proband from one family with bi‑allelic loss‑of‑function LAMP3 variants causing childhood interstitial lung disease, and references three additional unrelated families (total 4 families, ≥5 individuals) with similar chILD phenotypes but details on these are scant. Supportive mouse model published previously PMID 34161347. Sources: Literature |
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