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| Chromosome Breakage Disorders v2.0 | AARS1 | Gene symbol changed from AARS to AARS1 during gene set migration (ENSG00000090861 -> ENSG00000090861) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.6 | AARS |
Zornitza Stark gene: AARS was added gene: AARS was added to Chromosome Breakage Disorders. Sources: Literature Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS were set to 33909043 Phenotypes for gene: AARS were set to Trichothiodystrophy, MONDO:0018053 Review for gene: AARS was set to AMBER Added comment: PMID: 33909043 - Botta et al 2021 - using WES or WGS analysis of 34 unsolved cases with multi-system phenotypes, but with hair alterations that are typical of trichothiodystrophy but no reported photosensitivity, they identified 2 unrelated cases carrying 4 potentially pathogenic variants in the AARS1 gene (previously known as AARSB). Both patients had very rare compound heterozygous missense variants. In one family there was an older affected sibling but segregation data was not available for either family. Functional studies suggest that the variants affects gene product stability. Amber rating as 2 families only, and uncertain of underlying mechanism (unlikely chromosome breakage, gene is associated with other disease entities) but included due to phenotypic overlap. Sources: Literature |
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