AGRN

Red AGRN 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
• Radboud University Medical Center, Nijmegen
• Expert list

Phenotypes

• Fetal akinesia deformation sequence (FADS)

Green AGRN 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
• Radboud University Medical Center, Nijmegen

Phenotypes

• Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120

Red AGRN in Fetal anomalies

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

Sources

• Expert Review Red
• PAGE Additional Gene List

Phenotypes

• Fetal akinesia deformation sequence (FADS)

Green AGRN in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120