BAG3

BCL2 associated athanogene 3
OMIM: 603883, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green BAG3 in ClinGen Gene Validity Curations Version 0.65	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 3.17 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes myofibrillar myopathy 6, 612954
Green BAG3 in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 1.85	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 5.22 Latest signed off version: v5.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 4.37 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, myofibrillar, 6, OMIM:612954
Green BAG3 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.32 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myopathy, myofibrillar, 6, 612954
Green BAG3 in Dilated and arrhythmogenic cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 2.22 Latest signed off version: v2.8 (22 Mar 2023) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 1.477	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 Paediatric or syndromic cardiomyopathy Version 3.47 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH London South GLH Expert Review Green Phenotypes Cardiomyopathy, dilated, 1HH
Amber BAG3 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Cardiomyopathy, dilated, 1HH, 613881 Myopathy, myofibrillar, 6, 612954