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| Genetic Epilepsy v0.186 | ATP6V0A2 | Zornitza Stark Marked gene: ATP6V0A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.186 | ATP6V0A2 | Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.186 | ATP6V0A2 | Zornitza Stark Classified gene: ATP6V0A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.186 | ATP6V0A2 | Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.185 | ATP6V0A2 |
Zornitza Stark gene: ATP6V0A2 was added gene: ATP6V0A2 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V0A2 were set to 18157129; 22773132 Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, type IIA,219200 Review for gene: ATP6V0A2 was set to GREEN gene: ATP6V0A2 was marked as current diagnostic Added comment: AR cutis laxa type IIa (ARCLA2A) is a multi-system disorder with features including cutis laxa, abnormal growth, dev delay, and skeletal abnormalities. Cobblestone-like brain dysgenesis manifests as developmental delay and an epileptic syndrome: Morova et al, 2008 - 10 patients with cutis laxa and clinical features included epilepsy. Van Maldergem et al, 2008 - 11 patients from 9 families - 5/11 developed refractory seizures. All but 1 patient had variants in ATP6V0A2. Sources: Expert list |
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