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| Pulmonary Fibrosis_Interstitial Lung Disease v0.185 | IARS |
Zornitza Stark gene: IARS was added gene: IARS was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS were set to 40635052; 39950113 Phenotypes for gene: IARS were set to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 Review for gene: IARS was set to GREEN Added comment: PMID 39950113 reports an infant with biallelic IARS1 variants presenting with infantile pulmonary alveolar proteinosis, growth retardation, microcephaly, hypotonia, developmental delay and hepatopathy; PMID 40635052 reports 14 individuals from 14 unrelated families with biallelic IARS1 variants causing a recessive multisystem syndrome that includes pulmonary alveolar proteinosis in three families. Sources: Literature |
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| Pulmonary Fibrosis_Interstitial Lung Disease v0.180 | AIRE | Zornitza Stark Marked gene: AIRE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.180 | AIRE | Zornitza Stark Gene: aire has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.180 | AIRE | Zornitza Stark Classified gene: AIRE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.180 | AIRE | Zornitza Stark Gene: aire has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.179 | AIRE |
Zornitza Stark gene: AIRE was added gene: AIRE was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AIRE were set to 34401309; 31167928; 28458664 Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300 Review for gene: AIRE was set to GREEN Added comment: PMID 31167928 describes 21 APECED patients with pneumonitis (in some instances fatal), all carrying biallelic AIRE loss‑of‑function variants, and provides mouse model and patient bronchoalveolar lavage data linking AIRE deficiency to disease. Sources: Literature |
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