| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.38 | CTH | Zornitza Stark Marked gene: CTH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.38 | CTH | Zornitza Stark Gene: cth has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.38 | CTH | Zornitza Stark Classified gene: CTH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.38 | CTH | Zornitza Stark Gene: cth has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.18 | CTH |
Sangavi Sivagnanasundram gene: CTH was added gene: CTH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: CTH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTH were set to 20584029; 19428278; 12574942 Phenotypes for gene: CTH were set to cystathioninuria MONDO:0009058 Review for gene: CTH was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 14/06/2019 - https://search.clinicalgenome.org/CCID:004594 Inborn error of cystathionine gamma-lyase metabolism and has been reported in >5 affected individuals. Sources: ClinGen |
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