Hereditary spastic paraplegia
Gene: TECPR2

TECPR2 (tectonin beta-propeller repeat containing 2)
EnsemblGeneIds (GRCh38): ENSG00000196663
EnsemblGeneIds (GRCh37): ENSG00000196663
OMIM: 615000, Gene2Phenotype
TECPR2 is in 10 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019
Created: 3 May 2019, 9:11 a.m.

Created: 3 May 2019, 9:11 a.m.

Panel version: 1.203

Chris Buxton (North Bristol NHS Trust)

I don't know

Oz-Levi (2012, 23176824 ), ?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 Nov 2018, 11:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
complex HSP/dysautonomia

Publications

Created: 27 Nov 2018, 11:58 a.m.

Panel version: 1.71

Rebecca Foulger (Genomics England curator)

PMID:26542466 (2016) report 3 additional patients from unrelated non-Bukharian families, harboring two novel variants (c.1319delT, c.C566T) in TECPR2, suggesting that variants are not restricted to Bukharian origin.
Created: 31 Oct 2017, 11:56 a.m.

Created: 31 Oct 2017, 11:56 a.m.

Panel version: 1.36

emma baple (Genomics England Curator)

Comment when marking as ready: limited evidence founder Jewish mutation
Created: 10 May 2016, 2:09 p.m.

Created: 10 May 2016, 2:09 p.m.

Panel version: 0.36

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert list
Radboud University Medical Center, Nijmegen

Phenotypes

Spastic paraplegia 49, autosomal recessive, 615031

OMIM

615000

Clinvar variants

Variants in TECPR2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

31 Oct 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for TECPR2 were set to 23176824; 26542466

31 Oct 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for TECPR2 were set to Spastic paraplegia 49, autosomal recessive, 615031

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 1