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Arrhythmogenic right ventricular cardiomyopathy v3.3 | LMNA | Achchuthan Shanmugasundram Publications for gene: LMNA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic right ventricular cardiomyopathy v1.48 | LMNA | Ivone Leong Phenotypes for gene: LMNA were changed from to LMNA-related DCM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic right ventricular cardiomyopathy v1.45 | LMNA | Ivone Leong reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic right ventricular cardiomyopathy v1.44 | LMNA |
Ivone Leong Source Expert Review Green was added to LMNA. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Arrhythmogenic right ventricular cardiomyopathy v1.36 | LMNA | Matthew Edwards reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LMNA-related DCM; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic right ventricular cardiomyopathy v1.23 | LMNA | Rebecca Whittington commented on gene: LMNA: Cardiomyopathy, dilated, 1A (115200) and others | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic right ventricular cardiomyopathy v1.22 | LMNA | Rebecca Whittington commented on gene: LMNA: PubMED: 29567486 - core gene. Few patients on HGMD with DM variant and ARVC. Pubmed: 22199124 (LMNA variants mimic ARVC, some segregation. 4 families with ARVC and LMNA), 23684604. Genetic screening for LMNA gene is important for ARVC patients, particularly in patients with bradycardia (26620845) - 2 unrelated probands identified with LVNC variant - first LMNA mutation p.M1K was detected in a 62-year-old male proband, while the second mutation p.W514X was found in a 70-year-old male proband. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic right ventricular cardiomyopathy v1.21 | LMNA | Rebecca Whittington reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic right ventricular cardiomyopathy v1.20 | LMNA |
Ellen McDonagh Source South West GLH was added to LMNA. Mode of inheritance for gene LMNA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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Arrhythmogenic right ventricular cardiomyopathy v1.19 | LMNA | Ellen McDonagh reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic right ventricular cardiomyopathy v1.18 | LMNA | Ellen McDonagh Source London South GLH was added to LMNA. |