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| Dilated Cardiomyopathy and conduction defects v1.55 | ACTN2 | Rebecca Whittington commented on gene: ACTN2: OMIM#612158: Cardiomyopathy, dilated 1AA with or without LVNC and Cardiomyopathy, hypertrophic, 23, with or without LVNC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.54 | ACTN2 | Rebecca Whittington commented on gene: ACTN2: 11 variants on HGMD assoc with DCM - 5 classed as DM in a number of literature reviews. Note Walsh 2017 classes all variants found in their cohort as VUS. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601 - note no L pathogenic variants reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.53 | ACTN2 | Rebecca Whittington reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.47 | ACTN2 |
Ellen McDonagh Source South West GLH was added to ACTN2. Mode of inheritance for gene ACTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Dilated Cardiomyopathy and conduction defects v1.46 | ACTN2 | Ellen McDonagh reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.45 | ACTN2 | Ellen McDonagh Source London South GLH was added to ACTN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.44 | ACTN2 | James Eden reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26312134, 25224718, 27532257; Phenotypes: Cardiomyopathy, dilated, 1AA, with or without LVNC (612158), Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.43 | ACTN2 |
Ellen McDonagh Source North West GLH was added to ACTN2. Added phenotypes Cardiomyopathy, dilated, 1AA, with or without LVNC (612158); Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158) for gene: ACTN2 Publications for gene ACTN2 were changed from to 27532257; 25224718; 26312134 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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