| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Neuropathy_CMT - isolated v1.19 | SARS | Seb Lunke Marked gene: SARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.19 | SARS | Seb Lunke Added comment: Comment when marking as ready: potentially specific to the aminoacylation domain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.19 | SARS | Seb Lunke Gene: sars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.19 | SARS | Seb Lunke Classified gene: SARS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.19 | SARS | Seb Lunke Gene: sars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.18 | SARS |
Ee Ming Wong gene: SARS was added gene: SARS was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature Mode of inheritance for gene: SARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SARS were set to 36088542 Phenotypes for gene: SARS were set to Genetic peripheral neuropathy MONDO#0020127, SARS1-related Review for gene: SARS was set to GREEN gene: SARS was marked as current diagnostic Added comment: -Two missense variants within the aminoacylation domain identified in 16 affected individuals from 3 distinct CMT families -Mutant SerRS proteins exhibited reduced aminoacylation activity and abnormal SerRS dimerization, which suggests the impairment of total protein synthesis and induction of eIF2α phosphorylation Sources: Literature |
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