SGCG

Red SGCG in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0 (1 May 2024)

Sources

• Expert Review Red
• Expert list

Green SGCG in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.33
Latest signed off version: v4.32 (1 May 2024)

Component of the following Super Panels:

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 2C, 253700
• Limb-girdle muscular dystrophy

Green SGCG in Fetal anomalies

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• Expert Review Green
• Expert list

Phenotypes

• Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700
• Autosomal recessive limb-girdle muscular dystrophy type 2C, MONDO:0009677

Green SGCG in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700