Adult onset hereditary spastic paraplegia

Gene: TECPR2

I don't know

Childhood onset, one or two families reported. Suggested in Heimer et al 2016 PMID 26542466 not a form of HSP.

Created: 10 May 2019, 10:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 23176824
• 26542466

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

I don't know

Will include in local HSP panel ?founder fs deletion in Jewish Bukharian families with HSP-related phenotype. Some functional studies supporting an association. Zhu (2015, 25590979), different homozygous fs deletion. Pt had overlapping manifestations with SPG49. No functional studies. Currently included in Sheffield's HSP panel

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 49, autosomal recessive, 615031

Publications

• 23176824
• 26542466

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)

delayed motor development, spastic paraparesis, gastroesophageal reflux, and recurrent apneic episodes. affected members of 3 Jewish Bukharian families with autosomal recessive spastic paraplegia-49. In sheffield HSP panel

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 49, autosomal recessive,615031, AR