| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pulmonary Fibrosis_Interstitial Lung Disease v0.200 | NPC2 | Zornitza Stark Marked gene: NPC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.200 | NPC2 | Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.200 | NPC2 | Zornitza Stark Phenotypes for gene: NPC2 were changed from Niemann-pick disease, type C2 MIM#607625 to Niemann-Pick disease, type C2 MIM#607625 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.199 | NPC2 | Zornitza Stark Classified gene: NPC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.199 | NPC2 | Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.198 | NPC2 |
Zornitza Stark gene: NPC2 was added gene: NPC2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC2 were set to 36553254; 26024245; 25772320 Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2 MIM#607625 Review for gene: NPC2 was set to GREEN Added comment: PMID 25772320 reports 3 families; PMID 26024245 reports 1 family; PMID 28095804 reports 2 families; PMID 36553254 reports 1 family; PMID 39789920 reports 2 families (including 1 overlapping with PMID 26024245). In total 8 unrelated families (11 patients) present with Niemann‑Pick disease type C2 characterised by early‑onset interstitial lung disease/pulmonary alveolar proteinosis, and other features such as hepatosplenomegaly, and neurodevelopmental delay. Sources: Literature |
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