| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Catecholaminergic polymorphic VT v3.3 | TECRL | Arina Puzriakova Tag Q3_21_rating was removed from gene: TECRL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic polymorphic VT v3.3 | TECRL |
Arina Puzriakova 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) |
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| Catecholaminergic polymorphic VT v3.2 | TECRL | Arina Puzriakova reviewed gene: TECRL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic polymorphic VT v2.19 | TECRL | Ivone Leong Tag Q3_21_rating tag was added to gene: TECRL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic polymorphic VT v2.19 | TECRL | Ivone Leong edited their review of gene: TECRL: Added comment: 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.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic polymorphic VT v2.19 | TECRL |
Ivone Leong Added comment: 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. |
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| Catecholaminergic polymorphic VT v2.19 | TECRL | Ivone Leong Publications for gene: TECRL were set to 27861123 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic polymorphic VT v2.15 | TECRL | Ivone Leong Phenotypes for gene: TECRL were changed from Ventricular tachycardia, catecholaminergic polymorphic, 3 614021 to Ventricular tachycardia, catecholaminergic polymorphic, 3, OMIM:614021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic polymorphic VT v1.25 | TECRL | Ivone Leong reviewed gene: TECRL: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic polymorphic VT v1.24 | TECRL | Ivone Leong Phenotypes for gene: TECRL were changed from to Ventricular tachycardia, catecholaminergic polymorphic, 3 614021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic polymorphic VT v1.23 | TECRL | Ivone Leong Publications for gene: TECRL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic polymorphic VT v1.21 | TECRL | James Eden reviewed gene: TECRL: Rating: AMBER; Mode of pathogenicity: None; Publications: 27861123; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 3 614021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic polymorphic VT v1.14 | TECRL | Ellen McDonagh Classified gene: TECRL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic polymorphic VT v1.14 | TECRL | Ellen McDonagh Added comment: Comment on list classification: Gene submitted by the South West GLH. Promoted from Red to Amber for discussion with the NHSE GMS cardio specialist grou. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic polymorphic VT v1.14 | TECRL | Ellen McDonagh Gene: tecrl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic polymorphic VT v1.13 | TECRL | Rebecca Whittington commented on gene: TECRL: Ventricular tachycardia, catecholaminergic polymorphic, 3 (OMIM 614021) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic polymorphic VT v1.12 | TECRL | Rebecca Whittington commented on gene: TECRL: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic polymorphic VT v1.11 | TECRL | Rebecca Whittington reviewed gene: TECRL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic polymorphic VT v1.9 | TECRL |
Ellen McDonagh 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 |
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