| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.82 | MAT1A | Zornitza Stark Marked gene: MAT1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.82 | MAT1A | Zornitza Stark Gene: mat1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.82 | MAT1A | Zornitza Stark Classified gene: MAT1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.82 | MAT1A | Zornitza Stark Gene: mat1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.66 | MAT1A |
Sangavi Sivagnanasundram gene: MAT1A was added gene: MAT1A was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAT1A were set to 9042912; 11320206 Phenotypes for gene: MAT1A were set to methionine adenosyltransferase deficiency MONDO:0009607 Mode of pathogenicity for gene: MAT1A was set to Other Review for gene: MAT1A was set to GREEN Added comment: Well established gene-disease association. Dominant negative appears to be the mechanism of disease. Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 13/09/2019 - https://search.clinicalgenome.org/CCID:005340 Sources: ClinGen |
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