| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.12 | ASNS | Zornitza Stark Marked gene: ASNS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.12 | ASNS | Zornitza Stark Gene: asns has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.12 | ASNS | Zornitza Stark Publications for gene: ASNS were set to 29375865, 25663424, 25227173, 29405484, 28776279, 30315573 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.11 | ASNS | Zornitza Stark Classified gene: ASNS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.11 | ASNS | Zornitza Stark Gene: asns has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.9 | ASNS |
Sangavi Sivagnanasundram gene: ASNS was added gene: ASNS was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASNS were set to 29375865, 25663424, 25227173, 29405484, 28776279, 30315573 Phenotypes for gene: ASNS were set to congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0014258 Review for gene: ASNS was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:004187 Well established gene-disease association. Individuals have been reported with an inborn error of asparagine synthetase metabolism. Sources: ClinGen |
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