| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.86 | ADCY5 | Zornitza Stark Marked gene: ADCY5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.86 | ADCY5 | Zornitza Stark Gene: adcy5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.86 | ADCY5 | Zornitza Stark Classified gene: ADCY5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.86 | ADCY5 | Zornitza Stark Gene: adcy5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.36 | ADCY5 |
Luisa Mackenroth gene: ADCY5 was added gene: ADCY5 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADCY5 were set to 33528536; 33098801 Phenotypes for gene: ADCY5 were set to Dyskinesia with orofacial involvement MIM#606703 Mode of pathogenicity for gene: ADCY5 was set to Other Review for gene: ADCY5 was set to GREEN Added comment: Multiple individuals reported in two different cohort studies analyzing children diagnosed with CP. Clinical overlap with childhood onset dystonia likely. Reported mutations in CP patients indicate gain-of-function mechanism, but loss-of-function mechanism has been described for allelic mutations. Sources: Literature |
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