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Newborns main panel

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Demoted from Green to Amber due to advice from clinical experts.
Created: 26 Jun 2024, 9:13 a.m. | Last Modified: 26 Jun 2024, 9:13 a.m.
Panel Version: 0.465
Created: 26 Jun 2024, 9:13 a.m.
Last Modified: 26 Jun 2024, 9:13 a.m.
Panel version: 0.465

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 10 Oct 2023, 2:51 p.m. | Last Modified: 10 Oct 2023, 2:51 p.m.
Panel Version: 0.247
TECRL curation results (clinicalgenome.org)
Created: 14 Sep 2023, 11:02 a.m. | Last Modified: 14 Sep 2023, 11:02 a.m.
Panel Version: 0.238
Created: 14 Sep 2023, 11:02 a.m.
Last Modified: 14 Sep 2023, 11:02 a.m.
Panel version: 0.247

Details

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

History Filter Activity

26 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

27 Feb 2024, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag internal_inclusion_list_only tag was added to gene: TECRL.

14 Sep 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

gene: TECRL was added gene: TECRL was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TECRL were set to Ventricular tachycardia, catecholaminergic polymorphic, 3