Childhood onset hereditary spastic paraplegia
Gene: VAMP1EnsemblGeneIds (GRCh38): ENSG00000139190
EnsemblGeneIds (GRCh37): ENSG00000139190
OMIM: 185880, Gene2Phenotype
VAMP1 is in 12 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Adult and childhood onset. Single founder mutation in multiple families. Homozygous null alleles cause alternative phenotype.Created: 10 May 2019, 10:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Red gene with Green and Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.Created: 21 May 2019, 4:50 p.m.
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
Red rating on Hereditary spastic paraplegia panel 1.198
Added 'founder effect' tag based on Emma Baple's review of PMID:22958904.
Rebecca Foulger (Genomics England curator), 24 Oct 2017
Comment on mode of inheritance: Monoallelic mode of inheritance supported by OMIM.
Rebecca Foulger (Genomics England curator), 12 Oct 2017
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
emma baple (Genomics England Curator), 10 May 2016Created: 2 May 2019, 4:59 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. multiple affected members of 4 large multigenerational families. In sheffield HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Phenotypes
Spastic ataxia 1, autosomal dominant, 108600
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spastic ataxia 1, autosomal dominant, 108600
- OMIM
- 185880
- Clinvar variants
- Variants in VAMP1
- Penetrance
- None
- 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
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to VAMP1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: VAMP1 were set to 22958904
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to VAMP1.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: vamp1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: vamp1 has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to VAMP1.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to VAMP1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: VAMP1 was added gene: VAMP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VAMP1 were set to 22958904 Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600