SGCB

sarcoglycan beta
OMIM: 600900, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red SGCB in Dilated Cardiomyopathy and conduction defects

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.97

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Literature
Phenotypes
  • Dilated cardiomyopathy
Red SGCB in Arthrogryposis


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

review Not set
Sources
  • Expert Review Red
  • Expert list
Green SGCB in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


Level 2: Neurology
Version 5.29
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review 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