Hereditary ataxia

Gene: VAMP1

Amber List (moderate evidence)

VAMP1 (vesicle associated membrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000139190
EnsemblGeneIds (GRCh37): ENSG00000139190
OMIM: 185880, Gene2Phenotype
VAMP1 is in 12 panels

4 reviews

alisdair mcneill (Sheffield childrens hospital)

I don't know

clinical practice - single proband with VAMP1 missense, inherited from normal parent. Not seen any pathogenic VAMP1 variants despite local ataxia clinic doing very many ataxia panel tests
Created: 15 Apr 2018, 9:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Rebecca Foulger (Genomics England curator)

Added 'watchlist' tag after demoting gene rating to Amber, to stay informed of further cases to support causation.
Created: 24 Oct 2017, 4:29 p.m.
Comment on list classification: Demoted from Green to Amber after agreement with Arianna Tucci. Although multiple families with SPAX1 (MIM:108600) are reported in PMID:22958904, the authors suggest a Founder effect as only 1 variant is identified. The VAMP1 variant segregates in four HSA-affected families from Newfoundland and is present in three additional probands from Ontario. Previous reports describing the Newfoundland (Canada) families affected by SPAX1 had indicated the existence of an ancestrally shared haplotype. Therefore further data is required to establish that this variant is causative.
Created: 24 Oct 2017, 4:29 p.m.

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from expert and OMIM
Created: 4 Feb 2016, 2:30 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Multiple families but single variant. Mode of inheritance/pathogenicity: AD Loss-of-Function/Haploinsufficiency
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spastic Ataxia 1, autosomal dominant

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

24 Oct 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600

24 Oct 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene VAMP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

VAMP1 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

VAMP1 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN