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Intellectual disability syndromic and non-syndromic v0.2983 VAMP2 Zornitza Stark Phenotypes for gene: VAMP2 were changed from Intellectual disability; autism; no OMIM number yet to Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760; Cortical visual impairment; Seizures; Stereotypic behaviour; Generalized hypotonia; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.2982 VAMP2 Zornitza Stark reviewed gene: VAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760, Cortical visual impairment, Seizures, Stereotypic behaviour, Generalized hypotonia, Intellectual disability; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1402 VAMP2 Zornitza Stark Marked gene: VAMP2 as ready
Intellectual disability syndromic and non-syndromic v0.1402 VAMP2 Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1402 VAMP2 Zornitza Stark Phenotypes for gene: VAMP2 were changed from no OMIM number yet to Intellectual disability; autism; no OMIM number yet
Intellectual disability syndromic and non-syndromic v0.1278 VAMP2 Chirag Patel Classified gene: VAMP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1278 VAMP2 Chirag Patel Gene: vamp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1277 VAMP2 Chirag Patel gene: VAMP2 was added
gene: VAMP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VAMP2 were set to PMID: 30929742
Phenotypes for gene: VAMP2 were set to no OMIM number yet
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.
Sources: Literature