Adult onset hereditary spastic paraplegia

Gene: VAMP1

I don't know

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

• 22958904
• 27957547

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

Red List (low evidence)

1 report w/ Spastic ataxia phenotype. More recent reports of myasthenic syn pheno

Created: 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

• 22958904

I don't know

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.

Green List (high evidence)

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 panel

Created: 25 Apr 2019, 1:22 p.m.

Phenotypes
Spastic ataxia 1, autosomal dominant, 108600