Adult onset hereditary spastic paraplegia

Gene: VPS37A

Red List (low evidence)

Childhood onset. Two families with same mutation. No additional patients identified using Sheffield panel.

Created: 10 May 2019, 11:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 22717650

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

Red List (low evidence)

1 report HSP (Zivony-Elboum et al 2012). Subseqient report of hom vars in Idiopathic transverse myelitis.

Created: 27 Apr 2019, 4:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 53, autosomal recessive

Publications

• Zivony-Elboum et al. (2012)

I don't know

Green gene with Red 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)

9 affected members of 2 consanguineous Arab Moslem families with early-onset autosomal recessive spastic paraplegia-53, Haplotype analysis indicated a founder effect. In sheffield HSP panel

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

Phenotypes
Spastic paraplegia 53, autosomal recessive, 614898, AR