Molecular autopsy
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
Source London South GLH was added to ABCC9.
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; 27283775; 15569843; doi:10. 1007/ s12265-016-9673-5; 24439875 to 27532257; 27761167; 24439875; 15034580
Mode of pathogenicity for gene ABCC9 was changed from to Other Added phenotypes ventricular tachycardia; Dilated cardiomyopathy; atrial fibrillation; Brugada syndrome; short qt for gene: ABCC9 Publications for gene ABCC9 were changed from to 21383000; 27283775; 15569843; doi:10. 1007/ s12265-016-9673-5; 24439875
gene: ABCC9 was added gene: ABCC9 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ABCC9 were set to Dilated Cardiomyopathy, Dominant; Cardiomyopathy, dilated, 1O