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Genetic Epilepsy v0.188 ATP6V1A Zornitza Stark Marked gene: ATP6V1A as ready
Genetic Epilepsy v0.188 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.188 ATP6V1A Zornitza Stark Classified gene: ATP6V1A as Green List (high evidence)
Genetic Epilepsy v0.188 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.187 ATP6V1A Zornitza Stark gene: ATP6V1A was added
gene: ATP6V1A was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ATP6V1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP6V1A were set to 29668857; 28065471
Phenotypes for gene: ATP6V1A were set to Epileptic encephalopathy, infantile or early childhood, 618012; Cutis laxa, type IID, 617403
Review for gene: ATP6V1A was set to GREEN
gene: ATP6V1A was marked as current diagnostic
Added comment: Monoallelic variants associated with Epileptic encephalopathy, infantile or early childhood, 3 618012 and biallelic variants associated with Cutis laxa, autosomal recessive, type IID 617403. Both phenotypes include seizures.
Sources: Expert list