Hereditary spastic paraplegia

Gene: VAMP1

Red List (low evidence)

VAMP1 (vesicle associated membrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000139190
EnsemblGeneIds (GRCh37): ENSG00000139190
OMIM: 185880, Gene2Phenotype
VAMP1 is in 13 panels

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019
Created: 3 May 2019, 9:15 a.m.

Rebecca Foulger (Genomics England curator)

Added 'founder effect' tag based on Emma Baple's review of PMID:22958904.
Created: 24 Oct 2017, 4:17 p.m.
Comment on mode of inheritance: Monoallelic mode of inheritance supported by OMIM.
Created: 12 Oct 2017, 7:56 a.m.

emma baple (Genomics England Curator)

Comment when marking as ready: Newfoundland founder mutation described. Further evidence required
Bourassa, C. V., Meijer, I. A., Merner, N. D., Grewal, K. K., Stefanelli, M. G., Hodgkinson, K., Ives, E. J., Pryse-Phillips, W., Jog, M., Boycott, K., Grimes, D. A., Goobie, S., Leckey, R., Dion, P. A., Rouleau, G. A. VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. Am. J. Hum. Genet. 91: 548-552, 2012
Created: 10 May 2016, 2:16 p.m.

History Filter Activity

12 Oct 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for VAMP1 were set to 22958904

12 Oct 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for VAMP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

12 Oct 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

VAMP1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen