Paediatric or syndromic cardiomyopathy
Gene: ABCC9
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
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
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
OMIM#608569 Cardiomyopathy, dilated 1O; OMIM#614050 Atrial Fibrillation 12; OMIM#239850 Cantu SyndromeCreated: 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
Publications for gene: ABCC9 were set to
Source NHS GMS was added to ABCC9.
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