| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Aminoacidopathy v1.51 | GLDC | Zornitza Stark Marked gene: GLDC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.51 | GLDC | Zornitza Stark Gene: gldc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.51 | GLDC | Zornitza Stark Classified gene: GLDC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.51 | GLDC | Zornitza Stark Gene: gldc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.47 | GLDC |
Sangavi Sivagnanasundram gene: GLDC was added gene: GLDC was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLDC were set to 25736695; 27362913; 26179960; 24407464 Phenotypes for gene: GLDC were set to glycine encephalopathy MONDO:0011612 Review for gene: GLDC was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 06/02/2019 - https://search.clinicalgenome.org/CCID:004962 Well reported gene-disease association with reported individuals present with glycine encephalopathy. Sources: ClinGen |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||