Paediatric or syndromic cardiomyopathy

Gene: ABCC9

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

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

• 15034580

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

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