| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pulmonary Fibrosis_Interstitial Lung Disease v0.202 | POT1 | Zornitza Stark Marked gene: POT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.202 | POT1 | Zornitza Stark Gene: pot1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.202 | POT1 | Zornitza Stark Classified gene: POT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.202 | POT1 | Zornitza Stark Gene: pot1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.201 | POT1 |
Zornitza Stark gene: POT1 was added gene: POT1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature Mode of inheritance for gene: POT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POT1 were set to 35420632; 30995915 Phenotypes for gene: POT1 were set to Telomere syndrome, MONDO:0100137, POT1-related Review for gene: POT1 was set to AMBER Added comment: PMID 30995915 reports one individual with a heterozygous POT1 p.Q301H missense variant and adult‑onset progressive pulmonary fibrosis. PMID 35420632 reports 4 individuals from another unrelated family with a heterozygous POT1 p.L259S missense variant and adult‑onset idiopathic pulmonary fibrosis; the variant co‑segregates across two generations, shows genetic anticipation, and functional assays demonstrate loss‑of‑function. Telomere biology disorder. Sources: Literature |
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