Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: SGCB

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

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 8:26 a.m.

Created: 27 Jul 2016, 8:26 a.m.

Panel version: 0.116

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Limb-Girdle Muscular Dystrophy, Recessive
Muscular dystrophy, limb-girdle, type 2E, 604286
Limb-girdle muscular dystrophy

OMIM

600900

Clinvar variants

Variants in SGCB

Penetrance

Complete

Publications

http://www.ncbi.nlm.nih.gov/books/NBK1408/

Panels with this gene

History Filter Activity

27 Jul 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

29 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 May 2016, Gel status: 3

Set publications

Ellen Thomas (Genomics England Curator)

Publications for SGCB were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/

28 Jul 2015, Gel status: 3