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| Ataxia v2.23 | ASL | Sangavi Sivagnanasundram Classified gene: ASL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.23 | ASL | Sangavi Sivagnanasundram Gene: asl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.22 | ASL |
Sangavi Sivagnanasundram gene: ASL was added gene: ASL was added to Ataxia. Sources: Literature Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASL were set to 38044746 Phenotypes for gene: ASL were set to argininosuccinic aciduria, MONDO:0008815 Review for gene: ASL was set to AMBER Added comment: PMID 38044746 reports 7 unrelated individuals with argininosuccinic aciduria and ataxia as a presenting feature however only two of the individuals were reported to have genetic testing. Both individuals presented with compound heterozygous variants that are present in gnomAD v4.1 but rare enough for AR association. Sources: Literature |
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