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  2. Dilated Cardiomyopathy and conduction defects
  3. SGCB
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Dilated Cardiomyopathy and conduction defects

Gene: SGCB

Red List (low evidence)
SGCB (sarcoglycan beta)
EnsemblGeneIds (GRCh38): ENSG00000163069
EnsemblGeneIds (GRCh37): ENSG00000163069
OMIM: 600900, Gene2Phenotype
SGCB is in 3 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Muscular dystrophy, limb-girdle, autosomal recessive 4 OMIM#604286
Created: 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

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.55

Ellen McDonagh (Genomics England Curator)

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.
Created: 19 Feb 2016, 2:28 p.m.

Panel version: 1.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Literature
Phenotypes
  • Dilated cardiomyopathy
OMIM
600900
Clinvar variants
Variants in SGCB
Penetrance
Complete
Publications
  • 23349452
  • doi:10.​1007/​s12265-016-9673-5
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to SGCB. Mode of inheritance for gene SGCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

19 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SGCB was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Literature

19 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SGCB was created by ellenmcdonagh