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| Dystonia - complex v0.136 | VAMP2 | Zornitza Stark Marked gene: VAMP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.136 | VAMP2 | Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.136 | VAMP2 | Zornitza Stark Classified gene: VAMP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.136 | VAMP2 | Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.135 | VAMP2 |
Zornitza Stark gene: VAMP2 was added gene: VAMP2 was added to Dystonia - complex. 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 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760; Dystonia; Cortical visual impairment; Seizures; Stereotypic behaviour; Generalized hypotonia; Intellectual disability Review for gene: VAMP2 was set to GREEN Added comment: 5 unrelated patients with heterozygous de novo mutations in VAMP2, presenting with a neurodevelopmental disorder characterized by axial hypotonia, intellectual disability, and autistic features. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms. The abnormal movements included dystonia. Sources: Expert list |
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