| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.107 | SLC6A8 | Zornitza Stark Marked gene: SLC6A8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.107 | SLC6A8 | Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.107 | SLC6A8 | Zornitza Stark Classified gene: SLC6A8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.107 | SLC6A8 | Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.95 | SLC6A8 |
Sangavi Sivagnanasundram gene: SLC6A8 was added gene: SLC6A8 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC6A8 were set to 27604308; 16738945 Phenotypes for gene: SLC6A8 were set to creatine transporter deficiency MONDO:0010305 Review for gene: SLC6A8 was set to GREEN Added comment: Well-established gene disease association with reported individuals having error in creatine transport. Classified Definitive by Aminoacidopathy GCEP on 10/02/2020 - https://search.clinicalgenome.org/CCID:006200 Sources: ClinGen |
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