BIN1

Red BIN1 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
• Expert
• Radboud University Medical Center, Nijmegen
• UKGTN
• Illumina TruGenome Clinical Sequencing Services
• Expert list

Phenotypes

• Centronuclear Myopathy, Recessive
• Myopathy, centronuclear, autosomal recessive, 255200

Green BIN1 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.38
Latest signed off version: v4.37 (1 May 2024)

Component of the following Super Panels:

Sources

• NHS GMS
• London South GLH
• Expert Review Green
• Expert
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services
• UKGTN

Phenotypes

• Centronuclear myopathy 2, OMIM:255200

Tags

• watchlist_moi

Green BIN1 in Fetal anomalies

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

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• CENTRONUCLEAR MYOPATHY 2

Green BIN1 in DDG2P

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• CENTRONUCLEAR MYOPATHY 2 255200

Red BIN1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services
• Expert Review Red
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Gene2Phenotype confirmed gene with ID HPO

Green BIN1 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Centronuclear myopathy 2, 255200