Hereditary ataxia with onset in adulthood
Gene: VAMP1EnsemblGeneIds (GRCh38): ENSG00000139190
EnsemblGeneIds (GRCh37): ENSG00000139190
OMIM: 185880, Gene2Phenotype
VAMP1 is in 12 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
On both Oxford and Sheffield panels. more appropriate for myasthenia panel. Only 1 DM causing apastic ataxia in HGMD.Created: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
Added watchlist tag. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test groupCreated: 27 Apr 2019, 8:55 p.m. | Last Modified: 7 Jul 2019, 3:10 p.m.
Panel Version: 1.174
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Tricky one - excellent segregation evidence for a single variant predicted to have a haploinsufficient effect on the brain isoform of VAMP1, seen to segregate with disease in over 50 individuals across four Newfoundlound pedigrees. Problem is that AR variants also reported to cause a form of congenital myasthenia and parents who are carriers of null variants have not been reported with ataxia. Amber on balanceCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autosomal dominant spastic ataxia 1, 108600
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Hereditary ataxia v1.148
- Expert Review Amber
- Phenotypes
-
- Autosomal dominant spastic ataxia 1, 108600
- Spastic ataxia 1, autosomal dominant, 108600
- Tags
- OMIM
- 185880
- Clinvar variants
- Variants in VAMP1
- Penetrance
- None
- 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
Louise Daugherty (Genomics England Curator)Source London North GMS was added to VAMP1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Autosomal dominant spastic ataxia 1, 108600 for gene: VAMP1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to VAMP1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to VAMP1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Comment on phenotypes: Implica
Added Tag
Eleanor Williams (Genomics England Curator)Tag watchlist tag was added to gene: VAMP1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: VAMP1 was added gene: VAMP1 was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Hereditary ataxia v1.148 Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600