| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.243 | SETBP1 | Zornitza Stark Marked gene: SETBP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.243 | SETBP1 | Zornitza Stark Gene: setbp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.243 | SETBP1 | Zornitza Stark Classified gene: SETBP1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.243 | SETBP1 | Zornitza Stark Gene: setbp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.194 | SETBP1 |
Clare van Eyk gene: SETBP1 was added gene: SETBP1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SETBP1 were set to PMID: 38693247 Phenotypes for gene: SETBP1 were set to Intellectual developmental disorder, autosomal dominant 29, MIM#616078; Schinzel-Giedion midface retraction syndrome, MIM#269150 Review for gene: SETBP1 was set to RED Added comment: 1 individual with mono-allelic stopgain variant reported in large-scale exome sequencing study (PMID: 38693247). Sources: Literature |
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