1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. VAMP2
Genes in panel
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Adult onset dystonia, chorea or related 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

Created: 23 Apr 2019, 1:19 p.m.
Last Modified: 29 Sep 2019, 2:31 p.m.
Panel version: 0.128

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

Green List (high evidence)

Created: 23 Apr 2019, 1:13 p.m.

Panel version: 0.53

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • London North GLH
Phenotypes
  • Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, OMIM:618760
OMIM
185881
Clinvar variants
Variants in VAMP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: VAMP2 were set to

29 Mar 2021, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: VAMP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

29 Mar 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: VAMP2 were changed from to Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, OMIM:618760

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