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| Short QT syndrome v1.4 | ABCC9 | James Eden reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Atrial fibrillation, familial, 12 (614050), Cardiomyopathy, dilated, 1O (608569); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.3 | ABCC9 |
Ellen McDonagh Source North West GLH was added to ABCC9. Added phenotypes Cardiomyopathy, dilated, 1O (608569); Atrial fibrillation, familial, 12 (614050) for gene: ABCC9 Publications for gene ABCC9 were changed from 21383000; 15569843; 27283775 to 30420954; 19862833; 16301704 |
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| Short QT syndrome v0.4 | ABCC9 | Sarah Leigh reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.2 | ABCC9 |
Sarah Leigh Source Brugada syndrome (Version 1.7) was added to ABCC9. Source Expert Review Red was added to ABCC9. Mode of inheritance for gene ABCC9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from No List (delete) to Red List (low evidence) |
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| Short QT syndrome v0.1 | ABCC9 |
Jules Hancox gene: ABCC9 was added gene: ABCC9 was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: ABCC9 was set to Unknown Publications for gene: ABCC9 were set to 21383000; 15569843; 27283775 Phenotypes for gene: ABCC9 were set to short qt; ventricular tachycardia; atrial fibrillation Mode of pathogenicity for gene: ABCC9 was set to Other Review for gene: ABCC9 was set to RED Added comment: Would likely be gain of function mutations. The rationale for including this is that whilst mutations have not yet been detected, it is a candidate gene. ABCC9 encodes Sur2A and Sur2B which are components of the K(ATP) channel. Templin et al (PMID: 21383000) included it in a SQTS panel as a candidate gene along with KCNJ2 (another component of the KATP channel. A number of experimental studies have shown that K(ATP) channel activation gives a SQTS phenotype. Sources: Literature |
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