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| Paediatric or syndromic cardiomyopathy v8.14 | DSG2 | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There are at least three unrelated cases reported with childhood/ juvenile onset cardiomyopathy. Hence, the MOI can be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal ' in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v8.14 | DSG2 | Achchuthan Shanmugasundram Mode of inheritance for gene: DSG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v8.13 | DSG2 | Achchuthan Shanmugasundram Phenotypes for gene: DSG2 were changed from Cardiomyopathy, dilated, 1BB,; Arrhythmogenic right ventricular dysplasia 10 to Arrhythmogenic right ventricular dysplasia 10, OMIM:610193; arrhythmogenic right ventricular dysplasia 10, MONDO:0012434; Cardiomyopathy, dilated, 1BB, OMIM:612877; dilated cardiomyopathy 1BB, MONDO:0013030 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v8.12 | DSG2 | Achchuthan Shanmugasundram Publications for gene: DSG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v8.11 | DSG2 | Achchuthan Shanmugasundram Tag Q3_26_MOI tag was added to gene: DSG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v8.11 | DSG2 | Achchuthan Shanmugasundram reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31645976, 33949662, 37288269, 39706847; Phenotypes: Arrhythmogenic right ventricular dysplasia 10, OMIM:610193, arrhythmogenic right ventricular dysplasia 10, MONDO:0012434, Cardiomyopathy, dilated, 1BB, OMIM:612877, dilated cardiomyopathy 1BB, MONDO:0013030; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.16 | DSG2 | Ivone Leong reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | DSG2 | Ivone Leong Source NHS GMS was added to DSG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.1 | DSG2 |
Ivone Leong gene: DSG2 was added gene: DSG2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DSG2 were set to Cardiomyopathy, dilated, 1BB,; Arrhythmogenic right ventricular dysplasia 10 |
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