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| Catecholaminergic Polymorphic Ventricular Tachycardia v0.31 | TECRL | Zornitza Stark Publications for gene: TECRL were set to 17666061; 27861123; 30790670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.30 | TECRL | Zornitza Stark reviewed gene: TECRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 33367594; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.26 | TECRL | Zornitza Stark Marked gene: TECRL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.26 | TECRL | Zornitza Stark Gene: tecrl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.26 | TECRL | Zornitza Stark Phenotypes for gene: TECRL were changed from CPVT to Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.25 | TECRL | Zornitza Stark Classified gene: TECRL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.25 | TECRL | Zornitza Stark Gene: tecrl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic Polymorphic Ventricular Tachycardia v0.17 | TECRL |
Ivan Macciocca 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 Added comment: 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 |
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