| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Arrhythmogenic right ventricular cardiomyopathy v2.15 | TTN | Ivone Leong Tag for-review was removed from gene: TTN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v2.15 | TTN | Ivone Leong commented on gene: TTN: Submitted on behalf of NHS GMS "NHS disagree that TTN should be Green on the panel." | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v2.15 | TTN | Ivone Leong commented on gene: TTN: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v2.12 | TTN | Arina Puzriakova commented on gene: TTN: This gene will been flagged for review at the next GMS panel update, in the context of newly published data (added 'for-review' tag). High occurrence of arrhythmias has been associated with TTN-related DCM, which often precedes a DCM diagnosis. Therefore, there may be value in considering inclusion on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v2.12 | TTN | Arina Puzriakova changed review comment from: Recent 2020 paper (PMID: 33106378) reports a high burden of ventricular arrhythmias associated with TTNtv-related DCM. From a total of 115 patients, 43% had atrial fibrillation and 23% had ventricular arrhythmias. In 20% an arrhythmia preceded the DCM diagnosis.; to: Recent 2020 paper (PMID: 33106378) reports a high burden of arrhythmias associated with TTNtv-related DCM. From a total of 115 patients, 43% had atrial fibrillation, 23% had ventricular arrhythmias, and 13% had other supraventricular arrhythmias. In 20% an arrhythmia preceded the DCM diagnosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v2.12 | TTN | Arina Puzriakova Publications for gene: TTN were set to 30535219; 31251381 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v2.11 | TTN | Arina Puzriakova Tag for-review tag was added to gene: TTN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v2.11 | TTN | Arina Puzriakova reviewed gene: TTN: Rating: ; Mode of pathogenicity: None; Publications: 33106378; Phenotypes: Cardiomyopathy, dilated, 1G, 604145; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.54 | TTN | Ivone Leong Phenotypes for gene: TTN were changed from to Cardiomyopathy, dilated, 1G, 604145 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.53 | TTN | Ivone Leong Publications for gene: TTN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.45 | TTN | Ivone Leong reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.36 | TTN | Matthew Edwards reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30535219, 31251381; Phenotypes: OMIM 604145 Cardiomyopathy, dilated, 1G; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.36 | TTN | Matthew Edwards Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.36 | TTN | Matthew Edwards reviewed gene: TTN: Rating: ; Mode of pathogenicity: None; Publications: 30535219, 31251381; Phenotypes: OMIM 604145 Cardiomyopathy, dilated, 1G; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.23 | TTN | Rebecca Whittington commented on gene: TTN: Cardiomyopathy, dilated, 1G (604145); Cardiomyopathy, familial hypertrophic, 9 (613765) and others | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.22 | TTN | Rebecca Whittington commented on gene: TTN: PubMED: 29567486 - core gene. All missense on HGMD. Not for panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.21 | TTN | Rebecca Whittington reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.20 | TTN |
Ellen McDonagh Source South West GLH was added to TTN. Mode of inheritance for gene TTN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Arrhythmogenic right ventricular cardiomyopathy v1.19 | TTN | Ellen McDonagh reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.18 | TTN | Ellen McDonagh Source London South GLH was added to TTN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||