Dilated Cardiomyopathy and conduction defects
Gene: ABCC9
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
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.
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
Cantu syndrome. No evidence for a roel in Pirmary AD DCM.Created: 17 Jan 2019, 5:41 p.m.
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.
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
Source London South GLH was added to ABCC9.
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
Source Wessex and West Midlands GLH was added to ABCC9. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene ABCC9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene ABCC9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene ABCC9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene ABCC9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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