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Cardiomyopathies - including childhood onset

Gene: ABCC9

Green List (high evidence)

ABCC9 (ATP binding cassette subfamily C member 9)
EnsemblGeneIds (GRCh38): ENSG00000069431
EnsemblGeneIds (GRCh37): ENSG00000069431
OMIM: 601439, Gene2Phenotype
ABCC9 is in 15 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

James Eden (Manchester)

I don't know

Gene is associated with Cantu syndrome (OMIM #239850) which involves cardiomegaly as well as other symptoms. Some literature associates ABCC9 with DCM on HGMD.
Created: 3 Oct 2019, 11:49 a.m. | Last Modified: 3 Oct 2019, 11:49 a.m.
Panel Version: 0.13

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Atrial fibrillation, familial, 12 614050; Cardiomyopathy, dilated, 1O 608569; Hypertrichotic osteochondrodysplasia 239850

Publications

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

On CGGL Royal Brompton panel.

Cardiac manifestations in Cantu syndrome, therefore appropriate for inclusion here. Also associated with dilated cardiomyopathy, but evidence is limited for that (reviewed as Red on DCM panel).
Created: 2 Oct 2019, 10:42 a.m. | Last Modified: 2 Oct 2019, 10:42 a.m.
Panel Version: 0.13

Phenotypes
OMIM#239850:Cantu Syndrome

Variants in this GENE are reported as part of current diagnostic practice

Rebecca Whittington (South West GLH)

Green List (high evidence)

OMIM#608569 Cardiomyopathy, dilated 1O; OMIM#614050 Atrial Fibrillation 12; OMIM#239850 Cantu Syndrome
Created: 25 Mar 2019, 4:30 p.m.
Bienengraeber M Nat Genet. 2004 Apr;36(4):382-7. Epub 2004 Mar 21. 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

History Filter Activity

2 Dec 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ABCC9 were set to

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ABCC9.

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: ABCC9 was added gene: ABCC9 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ABCC9 were set to Dilated Cardiomyopathy, Dominant; Cardiomyopathy, dilated, 1O