Dilated Cardiomyopathy (DCM)
Gene: ABCC9Comment when marking as ready: On Manchester diagnostic panel; causes Hypertrichotic osteochondrodysplasia; unclear association with DCMCreated: 11 Feb 2016, 2:40 p.m.
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.
ABCC9 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Eligibility statement prior genetic testing
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).
ABCC9 was added to Dilated Cardiomyopathy (DCM)panel. Sources: UKGTN
Model of inheritance for gene ABCC9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ABCC9 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Model of inheritance for gene ABCC9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ABCC9 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Model of inheritance for gene ABCC9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ABCC9 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
ABCC9 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory