Hereditary ataxia
Gene: VAMP1
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
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.
Comment on list classification: Good evidence from expert and OMIMCreated: 4 Feb 2016, 2:30 p.m.
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
Phenotypes for VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene VAMP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
VAMP1 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
VAMP1 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN