This Panel is marked as Internal
ClinGen Gene Validity Curations
Gene: BAG3
BAG3 (BCL2 associated athanogene 3)
EnsemblGeneIds (GRCh38): ENSG00000151929
EnsemblGeneIds (GRCh37): ENSG00000151929
OMIM: 603883, Gene2Phenotype
BAG3 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000151929
EnsemblGeneIds (GRCh37): ENSG00000151929
OMIM: 603883, Gene2Phenotype
BAG3 is in 9 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 23 Jun 2017, 11:51 a.m.
Source: ClinGen Gene Validity Classification Summary. Determined as DEFINITIVE by calculated classification and DEFINITIVE by Expert curation (dated 12/18/2016). Available here: https://search.clinicalgenome.org/kb/gene-validity/5466.Created: 19 Apr 2017, 9:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- ClinGen
- Expert Review Green
- Other
- Phenotypes
-
- myofibrillar myopathy 6
- ORPHA593
- OMIM 612954
- OMIM
- 603883
- Clinvar variants
- Variants in BAG3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Congenital myopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated and arrhythmogenic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Dilated Cardiomyopathy and conduction defects
- Distal myopathies
- Hereditary neuropathy
History Filter Activity
20 Jun 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)BAG3 was added to ClinGen Gene Validity Curationspanel. Source: ClinGen
19 Apr 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 Apr 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)BAG3 was added to ClinGen Gene Validity Curationspanel. Sources: Other
19 Apr 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)BAG3 was created by ellenmcdonagh