Genes in panel

Adult onset movement disorder

Gene: VAMP2

Amber List (moderate evidence)

VAMP2 (vesicle associated membrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000220205
EnsemblGeneIds (GRCh37): ENSG00000220205
OMIM: 185881, Gene2Phenotype
VAMP2 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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

Phenotypes
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

Publications

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

History Filter Activity

13 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: vamp2 has been classified as Amber List (Moderate Evidence).

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: vamp2 has been classified as Green List (High Evidence).

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to VAMP2.

23 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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