Hereditary spastic paraplegia
Gene: VAMP1
VAMP1 (vesicle associated membrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000139190
EnsemblGeneIds (GRCh37): ENSG00000139190
OMIM: 185880, Gene2Phenotype
VAMP1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000139190
EnsemblGeneIds (GRCh37): ENSG00000139190
OMIM: 185880, Gene2Phenotype
VAMP1 is in 12 panels
3 reviews
Louise Daugherty (Genomics England Curator)
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 2019Created: 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, 2012Created: 10 May 2016, 2:16 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spastic ataxia 1, autosomal dominant, 108600
- Tags
- OMIM
- 185880
- Clinvar variants
- Variants in VAMP1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Congenital myaesthenic syndrome
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Arthrogryposis
- Intellectual disability
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
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