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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