Dilated Cardiomyopathy (DCM)
Gene: ABCC9EnsemblGeneIds (GRCh38): ENSG00000069431
EnsemblGeneIds (GRCh37): ENSG00000069431
OMIM: 601439, Gene2Phenotype
ABCC9 is in 14 panels
2 reviews
Caroline Wright (Genomics England Curator)
Comment when marking as ready: On Manchester diagnostic panel; causes Hypertrichotic osteochondrodysplasia; unclear association with DCMCreated: 11 Feb 2016, 2:40 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Variants reported in Cant syndrome. Questionable evidence for DCM. We are aware of only 3 variants reported in DCM cases in literature with no segregation described (Bienengraeber et al., 2004 and Pugh et al., 2014). Loss of function (splice site/framshift/nonsense) variants at high frequency in ExAC data.Created: 6 Jan 2016, 5:12 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Eligibility statement prior genetic testing
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Cardiomyopathy, dilated, 1O
- Dilated Cardiomyopathy, Dominant
- OMIM
- 601439
- Clinvar variants
- Variants in ABCC9
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Brugada syndrome and cardiac sodium channel disease
- Dilated and arrhythmogenic cardiomyopathy
- Short QT syndrome
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Familial Hirschsprung Disease
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
History Filter Activity
Upload gene information
Ellen McDonagh (Genomics England Curator)ABCC9 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Eligibility statement prior genetic testing
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).
Added New Source
Ellen McDonagh (Genomics England Curator)ABCC9 was added to Dilated Cardiomyopathy (DCM)panel. Sources: 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 (DCM)panel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
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 (DCM)panel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
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 (DCM)panel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)ABCC9 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory