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| Brugada syndrome and cardiac sodium channel disease v2.8 | ABCC9 | Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Cardiomyopathy, dilated, 1O (608569), Atrial fibrillation, familial, 12 (614050) and Dilated cardiomyopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v2.8 | ABCC9 | Ivone Leong Phenotypes for gene: ABCC9 were changed from Cardiomyopathy, dilated, 1O (608569); Brugada syndrome; Atrial fibrillation, familial, 12 (614050); Dilated cardiomyopathy to Brugada syndrome, MONDO:0015263 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.38 | ABCC9 | Rebecca Whittington commented on gene: ABCC9: Atrial fibrillation, familial, 12 (OMIM 614050), Cardiomyopathy, dilated, 1O (OMIM 608569), Hypertrichotic osteochondrodysplasia (Cantu -OMIM 239850) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.37 | ABCC9 | Rebecca Whittington commented on gene: ABCC9: Cantu gene - Gene assoc with specific features. No clear evidence from Hu paper as associated with Brugada - phenotypes overlapping and patient has SCN5A variant. PMID:24439875 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.36 | ABCC9 | Rebecca Whittington reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.23 | ABCC9 |
Ellen McDonagh Source South West GLH was added to ABCC9. Mode of inheritance for gene ABCC9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Brugada syndrome and cardiac sodium channel disease v1.19 | ABCC9 | James Eden reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: 24439875, 27761167; Phenotypes: Atrial fibrillation, familial, 12 (614050), Cardiomyopathy, dilated, 1O (608569); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.18 | ABCC9 |
Ellen McDonagh Source North West GLH was added to ABCC9. Mode of inheritance for gene ABCC9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cardiomyopathy, dilated, 1O (608569); Atrial fibrillation, familial, 12 (614050) for gene: ABCC9 Publications for gene ABCC9 were changed from 24439875; doi:10.1007/s12265-016-9673-5 to 27761167; 24439875 |
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