MUSK

No list MUSK in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64

Sources

• Expert list

Phenotypes

• Fetal akinesia deformation sequence 1, MIM# 208150

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

Phenotypes

• Fetal akinesia deformation sequence 208150
• Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 616325

Green MUSK in Congenital myaesthenic syndrome

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.6
Latest signed off version: v4.5 (1 May 2024)

Component of the following Super Panels:

Sources

• NHS GMS
• Wessex and West Midlands GLH
• Expert Review Green
• Emory Genetics Laboratory
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen

Phenotypes

• Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, OMIM:616325

Tags

• deletions

Green MUSK in Fetal anomalies

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

Sources

• PAGE Additional Gene List
• Expert Review Green

Phenotypes

• Fetal akinesia deformation sequence
• Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency

Green MUSK in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Fetal akinesia deformation sequence 1, 208150
• Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325