Dilated Cardiomyopathy and conduction defects
Gene: ABCC9EnsemblGeneIds (GRCh38): ENSG00000069431
EnsemblGeneIds (GRCh37): ENSG00000069431
OMIM: 601439, Gene2Phenotype
ABCC9 is in 14 panels
5 reviews
Rebecca Whittington (South West GLH)
OMIM#608569: Cardiomyopathy, dilated 1O; OMIM#614050: Atrial Fibrillation 12 OMIM#239850:Cantu SyndromeCreated: 25 Mar 2019, 4:30 p.m.
2 variants in 2004 paper (Bienengraeber M Nat Genet. 2004 Apr;36(4):382-7. Epub 2004 Mar 21.). 10 variants on HGMD assoc with DCM - only one from the Bienengraeber paper classed as DM but one nonsense classed as LP in Walsh by LMM group. Included in review of DCM genes -Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601)Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
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 DCM, 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
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Cantu syndrome. No evidence for a roel in Pirmary AD DCM.Created: 17 Jan 2019, 5:41 p.m.
Caroline Wright (Genomics England Curator)
Comment when marking as ready: On Manchester diagnostic panel; causes Hypertrichotic osteochondrodysplasia; unclear association with DCMCreated: 14 Feb 2016, 4:11 p.m.
Comment on list classification: On Manchester diagnostic panelCreated: 14 Feb 2016, 4:11 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- London South GLH
- North West GLH
- Wessex and West Midlands GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Cardiomyopathy, dilated, 1O
- Cardiomyopathy, dilated, 1O (608569)
- Atrial fibrillation, familial, 12 (614050)
- Dilated Cardiomyopathy, Dominant
- OMIM
- 601439
- Clinvar variants
- Variants in ABCC9
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Dilated and arrhythmogenic cardiomyopathy
- Short QT syndrome
- DDG2P
- Fetal anomalies
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Skeletal dysplasia
- Brugada syndrome and cardiac sodium channel disease
- Familial Hirschsprung Disease
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
History Filter Activity
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to ABCC9. Mode of inheritance for gene ABCC9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to ABCC9.
Added New Source, Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)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 to 27532257; 15034580
Added New Source, Status Update
Ellen McDonagh (Genomics England Curator)Source Wessex and West Midlands GLH was added to ABCC9. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ABCC9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)ABCC9 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ABCC9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)ABCC9 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ABCC9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)ABCC9 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ABCC9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)ABCC9 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)ABCC9 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN