| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1981 | ARID1A | Zornitza Stark Marked gene: ARID1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1981 | ARID1A | Zornitza Stark Gene: arid1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1981 | ARID1A | Zornitza Stark Phenotypes for gene: ARID1A were changed from Coffin-Siris Syndrome 2 to Coffin-Siris syndrome 2 #614607 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1980 | ARID1A | Zornitza Stark Classified gene: ARID1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1980 | ARID1A | Zornitza Stark Gene: arid1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1979 | ARID1A | Zornitza Stark reviewed gene: ARID1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 2 #614607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1975 | ARID1A |
John Coleman changed review comment from: Coffin siris type 2 - seizures present in some but not all patients. Known haploinsufficiency of ARID1A and association with seizures presentation & type (34942405). Seizure reported on OMIM. Multiple reports of affected and unaffected. Seizures in 2/9 patients in case series (25168959). 6 year old female with classic features of CS and fever provoked tonic clonic seizures (33303725). A female Chinese patient 24 days old with ARID1A and seizures with hypotonia (35571021- supplementary table 1). Paper from Zurich with 1 patient described in a CS cohort with ARID1A and seizures (23906836). Review article of 63 CS patients described another 1 of 4 patients with seizures (23929686) Sources: Literature, Expert Review; to: Coffin Siris type 2 - seizures present in some but not all patients. Known haploinsufficiency of ARID1A and association with seizures presentation & type (34942405). Seizure reported on OMIM. Multiple reports of affected and unaffected. Seizures in 2/9 patients in case series (25168959). 6 year old female with classic features of CS and fever provoked tonic clonic seizures (33303725). A female Chinese patient 24 days old with ARID1A and seizures with hypotonia (35571021- supplementary table 1). Paper from Zurich with 1 patient described in a CS cohort with ARID1A and seizures (23906836). Review article of 63 CS patients described another 1 of 4 patients with seizures (23929686) Sources: Literature, Expert Review |
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| Genetic Epilepsy v0.1975 | ARID1A |
John Coleman changed review comment from: Coffin siris type 2 - seizures present in some but not all patients. Known haploinsufficiency of ARID1A and association with seizures (34942405). Seizure reported on OMIM. Multiple reports of variable seizures. Seizures in 2/9 patients in case series (25168959). 6 year old female with classic features of CS and fever provoked tonic clonic seizures (33303725). A female Chinese patient 24 days old with ARID1A and seizures with hypotonia (35571021- supplementary table 1). Paper from Zurich with 1 patient described in a CS cohort with ARID1A and seizures (23906836). Review article of 63 CS patients described another 1 of 4 patients with seizures (23929686) Sources: Literature, Expert Review; to: Coffin siris type 2 - seizures present in some but not all patients. Known haploinsufficiency of ARID1A and association with seizures presentation & type (34942405). Seizure reported on OMIM. Multiple reports of affected and unaffected. Seizures in 2/9 patients in case series (25168959). 6 year old female with classic features of CS and fever provoked tonic clonic seizures (33303725). A female Chinese patient 24 days old with ARID1A and seizures with hypotonia (35571021- supplementary table 1). Paper from Zurich with 1 patient described in a CS cohort with ARID1A and seizures (23906836). Review article of 63 CS patients described another 1 of 4 patients with seizures (23929686) Sources: Literature, Expert Review |
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| Genetic Epilepsy v0.1975 | ARID1A |
John Coleman gene: ARID1A was added gene: ARID1A was added to Genetic Epilepsy. Sources: Literature,Expert Review Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARID1A were set to (PMID:34942405; 25168959; 33303725; 35571021; 23906836; 23929686) Phenotypes for gene: ARID1A were set to Coffin-Siris Syndrome 2 Review for gene: ARID1A was set to GREEN Added comment: Coffin siris type 2 - seizures present in some but not all patients. Known haploinsufficiency of ARID1A and association with seizures (34942405). Seizure reported on OMIM. Multiple reports of variable seizures. Seizures in 2/9 patients in case series (25168959). 6 year old female with classic features of CS and fever provoked tonic clonic seizures (33303725). A female Chinese patient 24 days old with ARID1A and seizures with hypotonia (35571021- supplementary table 1). Paper from Zurich with 1 patient described in a CS cohort with ARID1A and seizures (23906836). Review article of 63 CS patients described another 1 of 4 patients with seizures (23929686) Sources: Literature, Expert Review |
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