| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pulmonary Fibrosis_Interstitial Lung Disease v0.190 | IFIH1 | Zornitza Stark Marked gene: IFIH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.190 | IFIH1 | Zornitza Stark Gene: ifih1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.190 | IFIH1 | Zornitza Stark Classified gene: IFIH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.190 | IFIH1 | Zornitza Stark Gene: ifih1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.189 | IFIH1 |
Zornitza Stark gene: IFIH1 was added gene: IFIH1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IFIH1 were set to 37126154; 32508843 Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7, MIM#615846 Review for gene: IFIH1 was set to AMBER Added comment: PMID 32508843 reports an individual with a heterozygous gain-of-function IFIH1 p.R779H variant causing Aicardi‑Goutières syndrome with interstitial lung disease, psoriasis and pulmonary hypertension; PMID 37126154 reports a second individual with a de novo heterozygous gain-of-function IFIH1 variant causing infantile lethal interstitial lung disease. This may be be a rare but significant manifestation of AGS. Sources: Literature |
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