Adult onset movement disorderGene: VAMP2
Comment on list classification: downgraded to amber until evidence from the GLH
Created: 13 Nov 2019, 3:16 p.m. | Last Modified: 13 Nov 2019, 3:16 p.m.
Panel Version: 0.129
PMID: 30929742 : Literature reports 5 individuals, all with heterozygous de novo variants in VAMP2, it is currently not associated with any phenotypes in OMIM or G2P
Created: 13 Nov 2019, 3:13 p.m. | Last Modified: 13 Nov 2019, 3:13 p.m.
Panel Version: 0.128
Review and rating submitted by James Polke, unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m. | Last Modified: 29 Sep 2019, 2:31 p.m.
Panel Version: 0.125
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cortical visual impairment; Seizures; Stereotypic behavior; Generalized hypotonia; Intellectual disability; Abnormality of movement; Global developmental delay; Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment; Autistic behavior
Gene: vamp2 has been classified as Amber List (Moderate Evidence).
Gene: vamp2 has been classified as Green List (High Evidence).
Source NHS GMS was added to VAMP2.
gene: VAMP2 was added gene: VAMP2 was added to Adult onset movement disorder. Sources: London North GLH Mode of inheritance for gene: VAMP2 was set to