| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.314 | RTTN | Zornitza Stark Marked gene: RTTN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.314 | RTTN | Zornitza Stark Gene: rttn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.314 | RTTN | Zornitza Stark Classified gene: RTTN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.314 | RTTN | Zornitza Stark Gene: rttn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.294 | RTTN |
Clare van Eyk gene: RTTN was added gene: RTTN was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RTTN were set to PMID: 38693247 Phenotypes for gene: RTTN were set to Microcephaly, short stature, and polymicrogyria with seizures, MIM#614833 Review for gene: RTTN was set to RED Added comment: 1 individual reported with biallelic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Hypotonia and spasticity have been reported in MSSP. Sources: Literature |
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