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Distal myopathies

Gene: BAG3

Green List (high evidence)
BAG3 (BCL2 associated athanogene 3)
EnsemblGeneIds (GRCh38): ENSG00000151929
EnsemblGeneIds (GRCh37): ENSG00000151929
OMIM: 603883, Gene2Phenotype
BAG3 is in 9 panels

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Mutations in this gene cause an overlapping phenotype in differentials with distal myopathies
Created: 20 Feb 2017, 12:08 p.m.
Most mutations are de novo
Created: 1 Feb 2017, 9:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
myofibrillar myopathy 6, 612954

Publications

Created: 1 Feb 2017, 9:59 a.m.

Panel version: 0.5

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

BAG3 was added to Distal myopathiespanel. Sources: Expert Review

1 Feb 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

BAG3 was created by arianna