Adult onset hereditary spastic paraplegia

Gene: MTPAP

I don't know

Two families, childhood onset. No additional patients identified using Sheffield panel.

Created: 10 May 2019, 7:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 20970105
• 27391121

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

I don't know

see current PA review status

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive

I don't know

Green gene with 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)

2 families reported but good funcional work, 6 affected members of a large consanguineous family of Old Order Amish-FAMILY early childhood onset of progressive cerebellar ataxia, spastic paraparesis, dysarthria, and optic atrophy. In sheffield HSP panel

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

Phenotypes
?Spastic ataxia 4, autosomal recessive, 613672