COL13A1

Green COL13A1 in Other rare neuromuscular disorders

Version 19.202
Latest signed off version: v19.1 (22 Mar 2023)

Sources

• Expert Review Green

Phenotypes

• Congenital myasthenic syndrome type 19
• Myasthenic syndrome, congenital, 19, 616720

Amber COL13A1 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.37
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Amber
• Literature

Phenotypes

• Myasthenic syndrome, congenital, 19, OMIM:616720

Tags

• Q1_23_NHS_review
• treatable
• Q1_23_promote_green

Green COL13A1 in Congenital myaesthenic syndrome

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Wessex and West Midlands GLH
• Expert Review Green
• Eligibility statement prior genetic testing
• Literature

Phenotypes

• Myasthenic syndrome, congenital, 19, OMIM:616720

Tags

• treatable

Green COL13A1 in Fetal anomalies

Version 3.169
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• PAGE DD-Gene2Phenotype

Phenotypes

• Myasthenic syndrome, congenital, 19, OMIM:616720
• Congenital myasthenic syndrome 19, MONDO:0014745

Green COL13A1 in DDG2P

Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• DD-Gene2Phenotype

Phenotypes

• Congenital Myasthenic Syndrome Type 19

Green COL13A1 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Myasthenic syndrome, congenital, 19, 616720