| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.259 | KCNQ5 | Zornitza Stark Marked gene: KCNQ5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.259 | KCNQ5 | Zornitza Stark Gene: kcnq5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.259 | KCNQ5 | Zornitza Stark Classified gene: KCNQ5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.259 | KCNQ5 | Zornitza Stark Gene: kcnq5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.193 | KCNQ5 |
Clare van Eyk gene: KCNQ5 was added gene: KCNQ5 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KCNQ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNQ5 were set to PMID: 38693247 Phenotypes for gene: KCNQ5 were set to Intellectual developmental disorder, autosomal dominant 46, MIM#617601 Review for gene: KCNQ5 was set to AMBER Added comment: 1 individual with mono-allelic splice variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. Additional individuals described have motor delays, mostly with hypotonia (PMID: 35583973). Sources: Literature |
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