| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.72 | SARDH | Zornitza Stark Marked gene: SARDH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.72 | SARDH | Zornitza Stark Gene: sardh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.72 | SARDH | Zornitza Stark Classified gene: SARDH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.72 | SARDH | Zornitza Stark Gene: sardh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.66 | SARDH |
Sangavi Sivagnanasundram gene: SARDH was added gene: SARDH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SARDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARDH were set to 22825317 Phenotypes for gene: SARDH were set to sarcosinemia MONDO:0010008 Review for gene: SARDH was set to RED Added comment: The clinical phenotypes vary and sarcosinemia is considered a benign condition. Classified as Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022 https://search.clinicalgenome.org/CCID:006052 Sources: ClinGen |
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