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  2. Catecholaminergic Polymorphic Ventricular Tachycardia
  3. TECRL
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Catecholaminergic Polymorphic Ventricular Tachycardia

Gene: TECRL

Green List (high evidence)
TECRL (trans-2,3-enoyl-CoA reductase like)
EnsemblGeneIds (GRCh38): ENSG00000205678
EnsemblGeneIds (GRCh37): ENSG00000205678
OMIM: 617242, Gene2Phenotype
TECRL is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

-A multi-centre review published in 2020 provided an update on these cases and described two additional CPVT cases (homozygous p.Tyr197Ter nonsense variant and homozygous exon 2 deletion) and a family with three children with sudden cardiac death, where one was homozygous for the c.331+1G>A splice donor variant, PMID 33367594.

Now DEFINITIVE by ClinGen.
Created: 31 Dec 2021, 3:57 a.m. | Last Modified: 31 Dec 2021, 3:57 a.m.
Panel Version: 0.30

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021

Publications

Created: 31 Dec 2021, 3:57 a.m.
Last Modified: 31 Dec 2021, 3:57 a.m.
Panel version: 0.30

Ivan Macciocca (Victorian Clinical Genetics Services)

Green List (high evidence)

As at 03/06/2020, not assessed by ClinGen for association with CPVT; and is associated with CPVT3 in OMIM. Amber on GEL PanelApp
Homozygous or cpd heterozygous pathogenic variants in TECRL have been identified in patients with CPVT in at least 3 families in the literature with functional evidence.
- 17666061 one consanguineous family with 4 affected relatives (siblings or 1stcousins)
- 27861123 consanguineous family with 8 affected relatives (siblings or 1stcousins)
- 30790670 reported in a single family with one child with features of CPVT
This gene meets criteria for green.
Sources: Literature
Created: 3 Jun 2020, 11:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CPVT

Publications

Created: 3 Jun 2020, 11:12 a.m.

Panel version: 0.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021
OMIM
617242
Clinvar variants
Variants in TECRL
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TECRL were set to 17666061; 27861123; 30790670

3 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Jun 2020, Gel status: 0

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

Ivan Macciocca (Victorian Clinical Genetics Services)

gene: TECRL was added gene: TECRL was added to Catecholaminergic Polymorphic Ventricular Tachycardia. Sources: Literature Mode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TECRL were set to 17666061; 27861123; 30790670 Phenotypes for gene: TECRL were set to CPVT Penetrance for gene: TECRL were set to Complete Review for gene: TECRL was set to GREEN