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| Aminoacidopathy v1.22 | ACY1 | Zornitza Stark Marked gene: ACY1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.22 | ACY1 | Zornitza Stark Gene: acy1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.22 | ACY1 | Zornitza Stark Publications for gene: ACY1 were set to 4997716, 24117009, 16465618, 17562838, 21414403, 16274666, 20480396 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.21 | ACY1 | Zornitza Stark Classified gene: ACY1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.21 | ACY1 | Zornitza Stark Gene: acy1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.9 | ACY1 |
Sangavi Sivagnanasundram gene: ACY1 was added gene: ACY1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACY1 were set to 4997716, 24117009, 16465618, 17562838, 21414403, 16274666, 20480396 Phenotypes for gene: ACY1 were set to aminoacylase 1 deficiency MONDO:0012368 Review for gene: ACY1 was set to GREEN Added comment: Classified Definitive on 25/09/2020 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004051 Reported in >5 unrelated individuals with biochemically abnormal organic aciduria. LoF appears to be the mechanism of disease but no functional studies conducted at this stage. Sources: ClinGen |
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