Dilated Cardiomyopathy and conduction defects
Gene: BAG3
OMIM#613881: Cardiomyopathy, dilated, 1HH; OMIM#612954: Myopathy, myofibrillar, 6.Created: 25 Mar 2019, 4:30 p.m.
Core gene. HGMD 40 variants listed with DCM only 2 VUS. Many truncating variants.In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531.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.
Comment when marking as ready: Multiple unrelated individuals in OMIMCreated: 14 Feb 2016, 4:13 p.m.
Source South West GLH was added to BAG3. Mode of inheritance for gene BAG3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to BAG3. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene BAG3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
BAG3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Model of inheritance for gene BAG3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
BAG3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Model of inheritance for gene BAG3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
BAG3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
BAG3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory