| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.19 | GATM | Zornitza Stark Marked gene: GATM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.19 | GATM | Zornitza Stark Gene: gatm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.19 | GATM | Zornitza Stark Classified gene: GATM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.19 | GATM | Zornitza Stark Gene: gatm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.18 | GATM |
Sangavi Sivagnanasundram gene: GATM was added gene: GATM was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GATM were set to 26490222; 23770102; 12468279; 27233232 Phenotypes for gene: GATM were set to AGAT deficiency MONDO:0012996 Review for gene: GATM was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 08/03/2019 - https://search.clinicalgenome.org/CCID:004930 AGAT deficiency is an inborn error of creatine metabolism. Well established gene-disease association with evidence of segregation between affected individuals. LoF is the mechanism of disease Sources: ClinGen |
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