Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Genetic Epilepsy v0.596 | VPS13A | Zornitza Stark Marked gene: VPS13A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.596 | VPS13A | Zornitza Stark Gene: vps13a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.596 | VPS13A | Zornitza Stark Classified gene: VPS13A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.596 | VPS13A | Zornitza Stark Gene: vps13a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.595 | VPS13A |
Bryony Thompson changed review comment from: Epilepsy has been reported as a symptom at onset of the condition in >3 unrelated cases. Sources: Literature; to: Epilepsy has been reported as a symptom at onset of the condition in at least 8 unrelated cases. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.595 | VPS13A |
Bryony Thompson gene: VPS13A was added gene: VPS13A was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13A were set to 26813249; 30140251; 31192303 Phenotypes for gene: VPS13A were set to Choreoacanthocytosis MIM#200150 Review for gene: VPS13A was set to GREEN Added comment: Epilepsy has been reported as a symptom at onset of the condition in >3 unrelated cases. Sources: Literature |