| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.53 | GLUD1 | Zornitza Stark Marked gene: GLUD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.53 | GLUD1 | Zornitza Stark Gene: glud1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.53 | GLUD1 | Zornitza Stark Classified gene: GLUD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.53 | GLUD1 | Zornitza Stark Gene: glud1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.47 | GLUD1 |
Sangavi Sivagnanasundram gene: GLUD1 was added gene: GLUD1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GLUD1 were set to 9571255; 11214910; 26759084 Phenotypes for gene: GLUD1 were set to hyperinsulinism-hyperammonemia syndrome MONDO:0011717 Review for gene: GLUD1 was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 13/11/2020 - https://search.clinicalgenome.org/CCID:004968 Well-established gene disease association with reported individuals having a metabolic abnormality. Sources: ClinGen |
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