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Intellectual disability

Gene: TECPR2

Green List (high evidence)

TECPR2 (tectonin beta-propeller repeat containing 2)
EnsemblGeneIds (GRCh38): ENSG00000196663
EnsemblGeneIds (GRCh37): ENSG00000196663
OMIM: 615000, Gene2Phenotype
TECPR2 is in 9 panels

6 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 14 Nov 2017, 10:45 a.m.

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HEREDITARY SPASTIC PARAPARESIS

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Updated rating from Amber to Green following internal clinical review by Helen Brittain. Although originally restricted to a single variant in Bukharian Jewish families (PMID:23176824), a 2016 paper (PMID:26542466) report 3 additional patients from unrelated non-Bukharian families with ID phenotype and with novel TECPR2 variants. Probable DD-G2P gene for 'Hereditary spastic paraplegia' but from PMID:23176824 (2012) and PMID:26542466 (Jan 2016), there are sufficient (>3) unrelated cases of TECPR2 variants in patients with spastic paraplegia accompanied by ID/DD. PMID:23176824 report 3 Jewish Bukharian families with the same (likely founder) TECPR2 1bp deletion variant. PMID:26542466 report 3 additional patients from unrelated non-Bukharian families, harboring two novel variants (c.1319delT, c.C566T) in TECPR2.
Created: 29 Nov 2017, 11:19 a.m.
PMID:26542466 report 3 additional patients from unrelated non-Bukharian families with 2 novel variants in TECPR2 (c.1319delT, c.C566T). All 3 patients showed developmental delay and moderate-severe ID.
Created: 26 Sep 2017, 10:11 a.m.
PMID:23176824 (2012) report 5 individuals from 3 apparently unrelated Jewish Bukharian families with spastic paraplegia and a 1bp deletion in TECPR2 (c.3416delT, Leu1139ArgfsTer75). Affected individuals had developmental delay and moderate to severe ID.
Created: 26 Sep 2017, 10:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 49, autosomal recessive, 615031

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_201507;in_ddg2p_2_4_2017;in_omim_20150205_movement;in_movement_disorder_list . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 8:40 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_201507; gilissen_2014_candidate; omim_20150205_movement; manju_list; Nijmegen_ID_candidates; GEL_ID_red_20160217; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 1:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • 25529582
  • omim.org
  • Personal communication with NIHRBRRD BRIDGE SPEED

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: Further data required before diagnostic grade
Created: 8 Feb 2016, 1:38 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • Spastic paraplegia 49, autosomal recessive, 615031
OMIM
615000
Clinvar variants
Variants in TECPR2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

19 Dec 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for TECPR2 were set to 23176824; 26542466; 25529582

29 Nov 2017, Gel status: 4

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to TECPR2. Panel: Intellectual disability Publications for gene TECPR2 was set to ['23176824', ' 26542466']

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TECPR2 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TECPR2 was added to Intellectual disabilitypanel. Sources: Expert Review Amber