Dilated Cardiomyopathy and conduction defects
Gene: SGCB
Muscular dystrophy, limb-girdle, autosomal recessive 4 OMIM#604286Created: 25 Mar 2019, 4:30 p.m.
Listed with LGMD and DCM can be rarely associated: https://omim.org/clinicalSynopsis/604286. Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
On the Inherited Cardiac Condition Genes panel for Dilated cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1.Created: 19 Feb 2016, 2:28 p.m.
Source South West GLH was added to SGCB. Mode of inheritance for gene SGCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
SGCB was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Literature
SGCB was created by ellenmcdonagh