Sudden cardiac death - previous panel
Gene: ABCC9
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 49 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: no stated association with ICC, definitive association with hypertrichotic osteochondrodysplasia Cantu type, which includes some cardiac manifestations (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Atrial fibrillation, familial, 12 (614050); Cardiomyopathy, dilated, 1O (608569)
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: ABCC9 was added gene: ABCC9 was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ABCC9 were set to 27532257; 24439875; 27761167; 15034580 Phenotypes for gene: ABCC9 were set to short qt; Dilated Cardiomyopathy, Dominant; Dilated cardiomyopathy; ventricular tachycardia; Cardiomyopathy, dilated, 1O (608569); atrial fibrillation; Atrial fibrillation, familial, 12 (614050); Brugada syndrome; Cardiomyopathy, dilated, 1O Mode of pathogenicity for gene: ABCC9 was set to Other