COLQ

Green COLQ 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
• Expert list

Phenotypes

• Myasthenic syndrome, congenital, 5 603034

Green COLQ 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

Phenotypes

• Myasthenic syndrome, congenital, 5, OMIM:603034

Tags

• treatable

Red COLQ 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
• Yorkshire and North East GLH
• Expert Review

Phenotypes

• Myasthenic syndrome, congenital, 5, 603034
• Congenital myasthenic syndrome

Green COLQ in Fetal anomalies

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

Sources

• Expert Review Green
• Expert list

Phenotypes

• Myasthenic syndrome, congenital, 5, 603034

Green COLQ in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Myasthenic syndrome, congenital, 5, 603034