| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.33 | ASXL1 | Zornitza Stark Marked gene: ASXL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.33 | ASXL1 | Zornitza Stark Gene: asxl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.33 | ASXL1 | Zornitza Stark Classified gene: ASXL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.33 | ASXL1 | Zornitza Stark Gene: asxl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.32 | ASXL1 |
Clare van Eyk gene: ASXL1 was added gene: ASXL1 was added to Cerebral Palsy. Sources: Literature,Expert Review Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ASXL1 were set to 33528536; 30542205 Phenotypes for gene: ASXL1 were set to Bohring-Opitz syndrome (MIM 605039) Review for gene: ASXL1 was set to GREEN Added comment: 3 individuals with de novo loss of function variants identified in a retrospective CP cohort analysis (PMID 33528536) . One additional individual reported in PMID 30542205 with "atypical cerebral palsy". Truncal hypotonia with spasticity of the extremities are sometimes reported in BOS (but are not characteristic of the disorder), along with multiple developmental abnormalities of varying severity. Sources: Literature, Expert Review |
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