Hereditary spastic paraplegia - childhood onset

Gene: TECPR2

Amber List (moderate evidence)

TECPR2 (tectonin beta-propeller repeat containing 2)
EnsemblGeneIds (GRCh38): ENSG00000196663
EnsemblGeneIds (GRCh37): ENSG00000196663
OMIM: 615000, Gene2Phenotype
TECPR2 is in 8 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

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

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

Louise Daugherty (Genomics England Curator)

I don't know

Red gene with Green 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, 4:50 p.m.
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:54 p.m.
Red rating on Hereditary spastic paraplegia panel 1.198

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
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Submitted Amber rating.

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.
Rebecca Foulger (Genomics England curator), 31 Oct 2017

Comment when marking as ready: limited evidence founder Jewish mutation
emma baple (Genomics England Curator), 10 May 2016
Created: 2 May 2019, 4:52 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

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: 28 Apr 2019, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 49, autosomal recessive, 615031

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 49, autosomal recessive, 615031
OMIM
615000
Clinvar variants
Variants in TECPR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to TECPR2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to TECPR2.

2 May 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tecpr2 has been classified as Red List (Low Evidence).

28 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tecpr2 has been classified as Green List (High Evidence).

28 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TECPR2.

28 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to TECPR2.

3 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2

28 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: TECPR2 was added gene: TECPR2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TECPR2 were set to 23176824; 26542466 Phenotypes for gene: TECPR2 were set to Spastic paraplegia 49, autosomal recessive, 615031