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| Genetic Epilepsy v0.852 | VAMP2 | Zornitza Stark Phenotypes for gene: VAMP2 were changed from Cortical visual impairment; Seizures; Stereotypic behaviour; Generalized hypotonia; Intellectual disability to Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760; Cortical visual impairment; Seizures; Stereotypic behaviour; Generalized hypotonia; Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.851 | VAMP2 | Zornitza Stark edited their review of gene: VAMP2: Changed phenotypes: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760, Cortical visual impairment, Seizures, Stereotypic behaviour, Generalized hypotonia, Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.520 | VAMP2 | Zornitza Stark Marked gene: VAMP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.520 | VAMP2 | Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.520 | VAMP2 | Zornitza Stark Classified gene: VAMP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.520 | VAMP2 | Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.519 | VAMP2 |
Zornitza Stark gene: VAMP2 was added gene: VAMP2 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VAMP2 were set to 30929742 Phenotypes for gene: VAMP2 were set to Cortical visual impairment; Seizures; Stereotypic behaviour; Generalized hypotonia; Intellectual disability Review for gene: VAMP2 was set to GREEN gene: VAMP2 was marked as current diagnostic Added comment: Five unrelated individuals reported, three had seizures as part of the phenotype of this neurodevelopmental condition. Sources: Expert list |
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