BAG3

Green BAG3 in ClinGen Gene Validity Curations

Version 0.64

Sources

• ClinGen
• Expert Review Green
• Other

Phenotypes

• myofibrillar myopathy 6
• ORPHA593
• OMIM 612954

Green BAG3 in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.29
Latest signed off version: v1.21 (11 Nov 2020)

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert Review

Phenotypes

• myofibrillar myopathy 6, 612954

Green BAG3 in Neuromuscular disorders

Version 5.164
Latest signed off version: v5.43 (4 Mar 2020)

Sources

• Expert Review Green

Phenotypes

• myofibrillar myopathy 6, 612954
• Myopathy, myofibrillar, 6, 612954

Green BAG3 in Dilated Cardiomyopathy and conduction defects

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.68

Sources

• South West GLH
• London South GLH
• Expert Review Green
• Emory Genetics Laboratory
• Illumina TruGenome Clinical Sequencing Services
• Expert list
• Radboud University Medical Center, Nijmegen

Phenotypes

• Cardiomyopathy, dilated, 1HH

Red BAG3 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.98
Latest signed off version: v3.2 (13 Feb 2020)

Sources

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

Phenotypes

• Myopathy, myofibrillar, 6, 612954Cardiomyopathy, dilated, 1HH, 613881
• Myofibrillar Myopathy, Dominant

Red BAG3 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.28
Latest signed off version: v2.2 (2 Mar 2020)

Component of the following Super Panels:

Sources

• Expert Review Red
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen

Phenotypes

• Myopathy, myofibrillar, 6, 612954

Green BAG3 in Limb girdle muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.18
Latest signed off version: v2.4 (2 Mar 2020)

Component of the following Super Panels:

Sources

• Expert Review Green
• NHS GMS
• Yorkshire and North East GLH
• Expert Review

Phenotypes

• Myopathy, myofibrillar, 6, 612954

Green BAG3 in Dilated cardiomyopathy - adult and teen

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.24
Latest signed off version: v1.6 (15 Oct 2020)

Component of the following Super Panels:

Sources

• Expert Review Green
• NHS GMS

Phenotypes

• Cardiomyopathy, dilated, 1HH, 613881
• Myopathy, myofibrillar, 6, 612954

Green BAG3 in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.385

Sources

• Expert Review Green
• NHS GMS
• South West GLH
• UKGTN
• Emory Genetics Laboratory

Phenotypes

• Myopathy, myofibrillar, 6 612954
• Cardiomyopathy, dilated, 1HH, 613881

Green BAG3 in Cardiomyopathies - including childhood onset

Version 1.39
Latest signed off version: v1.4 (19 Feb 2020)

Sources

• NHS GMS
• South West GLH
• London South GLH
• Expert Review Green

Phenotypes

• Cardiomyopathy, dilated, 1HH

Amber BAG3 in Hereditary neuropathy NOT PMP22 copy number

Version 1.25
Latest signed off version: v1.2 (27 Feb 2020)

Sources

• Expert Review Amber
• South West GLH
• UKGTN
• Emory Genetics Laboratory
• NHS GMS
• NHS GMS
• South West GLH

Phenotypes

• Myopathy, myofibrillar, 6 612954
• Cardiomyopathy, dilated, 1HH, 613881

Green BAG3 in Severe Paediatric Disorders

Version 1.77

Sources

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

Phenotypes

• Cardiomyopathy, dilated, 1HH, 613881
• Myopathy, myofibrillar, 6, 612954