Adult onset hereditary spastic paraplegia
Gene: VAMP1
Adult and childhood onset. Single founder mutation in multiple families. Homozygous null alleles cause alternative phenotype.Created: 10 May 2019, 10:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Variants in this GENE are reported as part of current diagnostic practice
1 report w/ Spastic ataxia phenotype. More recent reports of myasthenic syn phenoCreated: 27 Apr 2019, 4:17 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic ataxia 1, autosomal dominant, 108600
Publications
Green gene with Red and Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 27 Apr 2019, 4:30 p.m.
characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. multiple affected members of 4 large multigenerational families. In sheffield HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Phenotypes
Spastic ataxia 1, autosomal dominant, 108600
Source Expert Review Amber was added to VAMP1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Publications for gene: VAMP1 were set to 22958904
Source Yorkshire and North East GLH was added to VAMP1.
Mode of inheritance for gene: VAMP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1 Publications for gene VAMP1 were changed from to 22958904
Source South West GLH was added to VAMP1.
Source Expert Review Green was added to VAMP1. Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to VAMP1.
gene: VAMP1 was added gene: VAMP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: VAMP1 was set to