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| Microcephaly v2.0 | IARS1 | Gene symbol changed from IARS to IARS1 during gene set migration (ENSG00000196305 -> ENSG00000196305) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.263 | IARS |
Zornitza Stark gene: IARS was added gene: IARS was added to Microcephaly. Sources: Expert list Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS were set to 27426735; 27891590 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: Microcephaly -3 to -5SD is part of the phenotype of this autosomal recessive multisystem disorder characterised by poor overall growth, impaired intellectual development, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present. At least 4 families reported. Note HGNC approved name is IARS1. Sources: Expert list |
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