| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.279 | DIAPH1 | Zornitza Stark Marked gene: DIAPH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.279 | DIAPH1 | Zornitza Stark Gene: diaph1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.279 | DIAPH1 | Zornitza Stark Classified gene: DIAPH1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.279 | DIAPH1 | Zornitza Stark Gene: diaph1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.275 | DIAPH1 |
Clare van Eyk gene: DIAPH1 was added gene: DIAPH1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: DIAPH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DIAPH1 were set to PMID: 38693247; 34125151 Phenotypes for gene: DIAPH1 were set to Seizures, cortical blindness, and microcephaly syndrome, MIM#616632 Review for gene: DIAPH1 was set to AMBER Added comment: 1 individual reported with biallelic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. De novo and rare, transmitted damaging variants in DIAPH1 have been reported as a risk factor for Moyamoya disease resulting in ischemic stroke, however CP was not reported as a sequelae in this case series (PMID:34125151). Sources: Literature |
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