| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pulmonary Fibrosis_Interstitial Lung Disease v1.5 | LAMP3 | Zornitza Stark Publications for gene: LAMP3 were set to 40023045; 34161347 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v1.4 | LAMP3 | Zornitza Stark Classified gene: LAMP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v1.4 | LAMP3 | Zornitza Stark Gene: lamp3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v1.3 | LAMP3 | Zornitza Stark edited their review of gene: LAMP3: Added comment: PMID 41653023 reports 13 individuals with biallelic variants in LAMP3, presenting with variable phenotypes ranging from neonatal respiratory distress to asymptomatic in adulthood. All symptomatic participants had ground glass opacities early in life and lung fibrosis later in life.; Changed rating: GREEN; Changed publications: 40023045, 34161347, 41653023 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v1.3 | LAMP3 | Renee Santoreneos Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v1.3 | LAMP3 | Renee Santoreneos reviewed gene: LAMP3: Rating: GREEN; Mode of pathogenicity: None; Publications: GIM 102531, 40023045, 34161347; Phenotypes: Interstitial lung disease, MONDO:0015925, LAMP3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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