Catecholaminergic polymorphic VT
Gene: TECRL
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 11:56 a.m. | Last Modified: 30 Jan 2023, 11:56 a.m.
Panel Version: 3.2
This gene is associated with a phenotype in OMIM and not Gene2Phenotype. There is now sufficient evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 28 Sep 2021, 9:53 a.m. | Last Modified: 28 Sep 2021, 9:53 a.m.
Panel Version: 2.19
Comment on publications: PMID: 30790670. 1 case (13 yo) with compound het variants in TECRL (R196Q, which was previously reported and a novel splice variant) was diagnosed with CPVT3. The proband's older brother suddenly died at 12 yo but DNA was unavailable for testing. Both heterozygous parents were unaffected.
PMID: 32173957. 4 families with novel homozygous/compound het TECRL variants (6 affected individuals).
PMID: 33367594. 7 additional families (10 affected individuals) with compound het/homozygous variants in TECRL.Created: 28 Sep 2021, 9:49 a.m. | Last Modified: 28 Sep 2021, 9:49 a.m.
Panel Version: 2.19
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
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
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.
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:27861123Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q3_21_rating was removed from gene: TECRL.
Source Expert Review Green was added to TECRL. Source NHS GMS was added to TECRL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_rating tag was added to gene: TECRL.
Publications for gene: TECRL were set to 27861123
Phenotypes for gene: TECRL were changed from Ventricular tachycardia, catecholaminergic polymorphic, 3 614021 to Ventricular tachycardia, catecholaminergic polymorphic, 3, OMIM:614021
Phenotypes for gene: TECRL were changed from to Ventricular tachycardia, catecholaminergic polymorphic, 3 614021
Publications for gene: TECRL were set to
Gene: tecrl has been classified as Amber List (Moderate Evidence).
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