| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.70 | SHMT2 | Zornitza Stark Marked gene: SHMT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.70 | SHMT2 | Zornitza Stark Gene: shmt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.70 | SHMT2 | Zornitza Stark Classified gene: SHMT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.70 | SHMT2 | Zornitza Stark Gene: shmt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.66 | SHMT2 |
Sangavi Sivagnanasundram gene: SHMT2 was added gene: SHMT2 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHMT2 were set to 33015733; 35398349; 29323231 Phenotypes for gene: SHMT2 were set to neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MONDO:0030866 Review for gene: SHMT2 was set to GREEN Added comment: Reported in 5 unrelated probands with abnormal biochemical function. Classified as Moderate by ClinGen Aminoacidopathy GCEP on 11/11/2022 https://search.clinicalgenome.org/CCID:006136 Sources: ClinGen |
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