Hereditary ataxia
Gene: VAMP1EnsemblGeneIds (GRCh38): ENSG00000139190
EnsemblGeneIds (GRCh37): ENSG00000139190
OMIM: 185880, Gene2Phenotype
VAMP1 is in 12 panels
4 reviews
alisdair mcneill (Sheffield childrens hospital)
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 testsCreated: 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 OMIMCreated: 4 Feb 2016, 2:30 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Multiple families but single variant. Mode of inheritance/pathogenicity: AD Loss-of-Function/HaploinsufficiencyCreated: 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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spastic ataxia 1, autosomal dominant, 108600
- Tags
- OMIM
- 185880
- Clinvar variants
- Variants in VAMP1
- Penetrance
- Complete
- 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
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
Added New Source
Ellen McDonagh (Genomics England Curator)VAMP1 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)VAMP1 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN