| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1967 | ADNP | Zornitza Stark Marked gene: ADNP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1967 | ADNP | Zornitza Stark Gene: adnp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1967 | ADNP | Zornitza Stark Phenotypes for gene: ADNP were changed from Seizures; Epilpesy; Focal Seizures; Absence seizures to Helsmoortel-van der Aa syndrome MIM#615873 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1966 | ADNP | Zornitza Stark Classified gene: ADNP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1966 | ADNP | Zornitza Stark Gene: adnp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1950 | ADNP |
John Coleman gene: ADNP was added gene: ADNP was added to Genetic Epilepsy. Sources: Literature,Expert Review Mode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADNP were set to (PMID: 27054228; 24531329) Phenotypes for gene: ADNP were set to Seizures; Epilpesy; Focal Seizures; Absence seizures Review for gene: ADNP was set to GREEN Added comment: ADNP related disorders. Review paper showing 12 of 78 patient cohort with seizures of various types - focal, absence. Other features: hypotonia, developmental delay, mild-to-severe intellectual disability, facial dysmorphic features, behavioral problems, sleep disturbance, brain abnormalities, feeding issues, gastrointestinal problems, visual dysfunction, musculoskeletal anomalies, endocrine issues including short stature and hormonal deficiencies, cardiac and urinary tract anomalies & hearing loss. An older cohort showed 2 of 10 individuals with seizures. Seizures is not the predominant phenotype but a feature in some cases. Sources: Literature, Expert Review |
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