Catecholaminergic polymorphic VT

Gene: TECRL

Amber List (moderate evidence)

TECRL (trans-2,3-enoyl-CoA reductase like)
EnsemblGeneIds (GRCh38): ENSG00000205678
EnsemblGeneIds (GRCh37): ENSG00000205678
OMIM: 617242, Gene2Phenotype
TECRL is in 2 panels

4 reviews

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 18 Nov 2019, 2:59 p.m. | Last Modified: 18 Nov 2019, 2:59 p.m.
Panel Version: 1.25

James Eden (Manchester)

I don't know

Only associated with CPVT in one article, although variants detected in three different families.
Created: 27 Sep 2019, 2:03 p.m. | Last Modified: 27 Sep 2019, 2:03 p.m.
Panel Version: 1.21

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ventricular tachycardia, catecholaminergic polymorphic, 3 614021

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene submitted by the South West GLH. Promoted from Red to Amber for discussion with the NHSE GMS cardio specialist group.
Created: 25 Mar 2019, 5:20 p.m.

Rebecca Whittington (South West GLH)

Green List (high evidence)

Ventricular tachycardia, catecholaminergic polymorphic, 3 (OMIM 614021)
Created: 25 Mar 2019, 4:30 p.m.
Only one entry linked to one paper for cardiac arrhythmia but showed homozygosity for splice mutation that segregated in the family. Possible overlapping phenotype with LQTS. 3 different families described in the paper (2016): PMID:27861123
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • South West GLH
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 3 614021
OMIM
617242
Clinvar variants
Variants in TECRL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Oct 2019, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TECRL were changed from to Ventricular tachycardia, catecholaminergic polymorphic, 3 614021

1 Oct 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TECRL were set to

25 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: tecrl has been classified as Amber List (Moderate Evidence).

21 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: TECRL was added gene: TECRL was added to Catecholaminergic polymorphic VT. Sources: South West GLH Mode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal