| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.250 | NOTCH1 | Zornitza Stark Marked gene: NOTCH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.250 | NOTCH1 | Zornitza Stark Gene: notch1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.250 | NOTCH1 | Zornitza Stark Classified gene: NOTCH1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.250 | NOTCH1 | Zornitza Stark Gene: notch1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.194 | NOTCH1 |
Clare van Eyk gene: NOTCH1 was added gene: NOTCH1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH1 were set to PMID: 38693247 Phenotypes for gene: NOTCH1 were set to Adams-Oliver syndrome 5, MIM#616028 Review for gene: NOTCH1 was set to AMBER Added comment: 3 individuals with mono-allelic P/LP variants (1 splice, 1 stopgain, 1 missense) reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided. Sources: Literature |
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