| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.246 | PACS1 | Zornitza Stark Marked gene: PACS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.246 | PACS1 | Zornitza Stark Gene: pacs1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.246 | PACS1 | Zornitza Stark Classified gene: PACS1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.246 | PACS1 | Zornitza Stark Gene: pacs1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.194 | PACS1 |
Clare van Eyk gene: PACS1 was added gene: PACS1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PACS1 were set to PMID: 38693247 Phenotypes for gene: PACS1 were set to Schuurs-Hoeijmakers syndrome, MIM#615009 Review for gene: PACS1 was set to AMBER Added comment: 2 individuals with mono-allelic variants (1 missense, 1 splice) reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided. PACS1 variants are associated with hypotonia starting in the new-born period which may persist throughout childhood. Sources: Literature |
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