Sudden cardiac death - previous panel
Gene: ABCC9EnsemblGeneIds (GRCh38): ENSG00000069431
EnsemblGeneIds (GRCh37): ENSG00000069431
OMIM: 601439, Gene2Phenotype
ABCC9 is in 14 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
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.
James Eden (Manchester)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London South GLH
- North West GLH
- Expert Review Green
- London South GLH
- North West GLH
- Expert Review Green
- Phenotypes
-
- 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
- OMIM
- 601439
- Clinvar variants
- Variants in ABCC9
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Short QT syndrome
- Hereditary neuropathy or pain disorder
- Brugada syndrome and cardiac sodium channel disease
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- DDG2P
- Skeletal dysplasia
- Familial Hirschsprung Disease
- Hereditary neuropathy
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Dilated and arrhythmogenic cardiomyopathy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Ivone Leong (Genomics England Curator)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