DUX4

Red DUX4 in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Red
• Eligibility statement prior genetic testing

Phenotypes

• FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (FSHD1A)

Red DUX4 in Congenital muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.24
Latest signed off version: v4.23 (1 May 2024)

Component of the following Super Panels:

Sources

• UKGTN

Phenotypes

• Facioscapulohumeral Muscular Dystrophy 1A

Tags

• treatable
• currently-ngs-unreportable
• cnv

Red DUX4 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.1
Latest signed off version: v6.0 (1 May 2024)

Sources

• Expert Review Red
• UKGTN

Phenotypes

• Facioscapulohumeral Muscular Dystrophy 1A

Red DUX4 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 Red
• NHS GMS
• South West GLH
• Expert Review

Phenotypes

• Facioscapulohumeral muscular dystrophy, 158900