| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.238 | SLC6A5 | Zornitza Stark Marked gene: SLC6A5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.238 | SLC6A5 | Zornitza Stark Gene: slc6a5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.238 | SLC6A5 | Zornitza Stark Classified gene: SLC6A5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.238 | SLC6A5 | Zornitza Stark Gene: slc6a5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.194 | SLC6A5 |
Clare van Eyk gene: SLC6A5 was added gene: SLC6A5 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC6A5 were set to PMID: 38693247 Phenotypes for gene: SLC6A5 were set to Hyperekplexia 3, MIM#614618 Review for gene: SLC6A5 was set to AMBER Added comment: 2 individuals with mono-allelic pathogenic stopgain variants reported in large-scale exome sequencing study (PMID: 38693247). Sources: Literature |
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