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| Pulmonary Fibrosis_Interstitial Lung Disease v2.0 | IARS1 | Gene symbol changed from IARS to IARS1 during gene set migration (ENSG00000196305 -> ENSG00000196305) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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