Genes in panel

Hereditary ataxia - adult onset

Gene: VAMP1

Amber List (moderate evidence)

VAMP1 (vesicle associated membrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000139190
EnsemblGeneIds (GRCh37): ENSG00000139190
OMIM: 185880, Gene2Phenotype
VAMP1 is in 14 panels

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

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)

I don't know

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 Amber
Created: 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 group
Created: 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)

I don't know

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 balance
Created: 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
watchlist
OMIM
185880
Clinvar variants
Variants in VAMP1
Penetrance
None
Panels with this gene

History Filter Activity

27 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GMS was added to VAMP1.

15 Apr 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Autosomal dominant spastic ataxia 1, 108600 for gene: VAMP1

14 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to VAMP1.

14 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to VAMP1.

9 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: Implica

18 Dec 2018, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist tag was added to gene: VAMP1.

15 Dec 2018, Gel status: 2

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