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Dilated Cardiomyopathy and conduction defects v1.55 DSG2 Rebecca Whittington commented on gene: DSG2: Arrhythmogenic right ventricular dysplasia 10, OMIM#610193; Cardiomyopathy, dilated, 1BB OMIM#612877
Dilated Cardiomyopathy and conduction defects v1.54 DSG2 Rebecca Whittington commented on gene: DSG2: HGMD: 2 variants classed DM with DCM: Garcia-Pavia (2011) Heart 97: 1744 - Four variants in patients with DCM only one classed as pathogenic as frameshift. Walsh 2017 (Walsh (2017) Genet Med 19: 192) - 1 variant VUS -4 which was classed as pathogenic by Elliot 2010 ( Elliott (2010) Circ Cardiovasc Genet 3: 314 ) and NG 2013 (Ng (2013) Circ Cardiovasc Genet 6: 337) but has a freq of 0.0079%. No family studies but two variants identified in patients with a second variant and FH.
Dilated Cardiomyopathy and conduction defects v1.53 DSG2 Rebecca Whittington reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.47 DSG2 Ellen McDonagh Source South West GLH was added to DSG2.
Mode of inheritance for gene DSG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.46 DSG2 Ellen McDonagh reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.45 DSG2 Ellen McDonagh Source London South GLH was added to DSG2.