Hereditary spastic paraplegiaGene: VAMP1
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.
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.
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.
Publications for VAMP1 were set to 22958904
Mode of inheritance for VAMP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600
This gene has been classified as Red List (Low Evidence).
VAMP1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen