This Panel is marked as Internal
Cardiac arrhythmias - previous panel
Gene: ABCC9
ABCC9 (ATP binding cassette subfamily C member 9)
EnsemblGeneIds (GRCh38): ENSG00000069431
EnsemblGeneIds (GRCh37): ENSG00000069431
OMIM: 601439, Gene2Phenotype
ABCC9 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000069431
EnsemblGeneIds (GRCh37): ENSG00000069431
OMIM: 601439, Gene2Phenotype
ABCC9 is in 14 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- short qt
- Brugada syndrome
- ventricular tachycardia
- atrial fibrillation
- Dilated cardiomyopathy
- OMIM
- 601439
- Clinvar variants
- Variants in ABCC9
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Intellectual disability
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Short QT syndrome
- Fetal anomalies
- Familial Hirschsprung Disease
- Hereditary neuropathy
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Skeletal dysplasia
- Brugada syndrome and cardiac sodium channel disease
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hereditary neuropathy or pain disorder
History Filter Activity
28 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Eleanor Williams: Sources: Literature
20 Dec 2018, Gel status: 1
Set mode of pathogenicity
Rebecca Foulger (Genomics England curator)Mode of pathogenicity for gene: ABCC9 was changed from to Other
17 Dec 2018, Gel status: 1
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes atrial fibrillation; ventricular tachycardia; short qt for gene: ABCC9
17 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: ABCC9 was added gene: ABCC9 was added to Cardiac arrythmias. Sources: Expert Review Red Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ABCC9 were set to 21383000; 27283775; 15569843; 24439875; doi:10. 1007/ s12265-016-9673-5 Phenotypes for gene: ABCC9 were set to Brugada syndrome; Dilated cardiomyopathy