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  3. VAMP2
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Childhood onset dystonia, chorea or related movement disorder

Gene: VAMP2

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

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: Phenotype from Salpietro et al. Am J Hum Genet. 2019 Apr 4;104(4):721-730) de novo mutations in 5 unrelated individuals phenotype neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. More severe phenotype includes additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities
Created: 7 Dec 2019, 10:24 p.m. | Last Modified: 7 Dec 2019, 10:24 p.m.
Panel Version: 0.121
Created: 7 Dec 2019, 10:24 p.m.
Last Modified: 7 Dec 2019, 10:24 p.m.
Panel version: 0.121

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Based on other panels
Created: 6 Dec 2019, 6:07 p.m. | Last Modified: 6 Dec 2019, 6:07 p.m.
Panel Version: 0.103
Created: 6 Dec 2019, 6:07 p.m.
Last Modified: 6 Dec 2019, 6:07 p.m.
Panel version: 0.103

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

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • axial hypotonia intellectual disability autistic features central visual impairment hyperkinetic movement disorder epilepsy or electroencephalography abnormalities
OMIM
185881
Clinvar variants
Variants in VAMP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Dec 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: VAMP2 were set to

7 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: VAMP2 were changed from to axial hypotonia intellectual disability autistic features central visual impairment hyperkinetic movement disorder epilepsy or electroencephalography abnormalities

6 Dec 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: VAMP2 was added gene: VAMP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: VAMP2 was set to