| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.196 | COL6A3 | Zornitza Stark Marked gene: COL6A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.196 | COL6A3 | Zornitza Stark Gene: col6a3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.196 | COL6A3 | Zornitza Stark Classified gene: COL6A3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.196 | COL6A3 | Zornitza Stark Gene: col6a3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.194 | COL6A3 |
Clare van Eyk gene: COL6A3 was added gene: COL6A3 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL6A3 were set to PMID: 38693247 Phenotypes for gene: COL6A3 were set to Dystonia 27, MIM#616411 Review for gene: COL6A3 was set to RED Added comment: 2 individuals reported with biallelic variants in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Sources: Literature |
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