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| Genetic Epilepsy v0.1130 | ATP1A3 | Zornitza Stark Marked gene: ATP1A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1130 | ATP1A3 | Zornitza Stark Gene: atp1a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1130 | ATP1A3 | Zornitza Stark Phenotypes for gene: ATP1A3 were changed from to developmental and epileptic encephalopathy; early or neonatal onset seizures, polymicrogyria | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1129 | ATP1A3 | Zornitza Stark Publications for gene: ATP1A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1128 | ATP1A3 | Zornitza Stark Mode of inheritance for gene: ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1127 | ATP1A3 | Zornitza Stark reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1124 | ATP1A3 |
Ee Ming Wong changed review comment from: - sixteen individuals with de novo or inherited variants (1 variant was mosaic) - Mutant constructs transfected into COS-1 cells demonstrated impaired NKA-pump activity; to: - sixteen individuals with de novo or inherited variants (1 variant was mosaic) - Mutant constructs transfected into COS-1 cells demonstrated impaired NKA-pump activity |
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| Genetic Epilepsy v0.1124 | ATP1A3 |
Ee Ming Wong changed review comment from: - six individuals with de novo missense variants - Mutant constructs transfected into COS-1 cells demonstrated impaired NKA-pump activity; to: - sixteen individuals with de novo or inherited variants (1 variant was mosaic) - Mutant constructs transfected into COS-1 cells demonstrated impaired NKA-pump activity |
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| Genetic Epilepsy v0.1124 | ATP1A3 | Ee Ming Wong reviewed gene: ATP1A3: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33880529; Phenotypes: developmental and epileptic encephalopathy, early or neonatal onset seizures, polymicrogyria; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.0 | ATP1A3 |
Zornitza Stark gene: ATP1A3 was added gene: ATP1A3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ATP1A3 was set to Unknown |
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