Limb-Girdle Muscular Dystrophy and Distal Myopathy

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Phenotypic overlap.
Created: 29 Jun 2020, 10:21 a.m. | Last Modified: 29 Jun 2020, 10:21 a.m.
Panel Version: 0.25

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM notes onset is in late childhood to early teens. Mutation p.Pro209Leu is recurring.

PMID: 25208129 - 1 heterozygous patient with lower limb weakness and onset at 34 years.

PMID: 22734908 - 4 patients with heterozygous mutations.
Patient 1 - onset at 13 years old with lumbar spine rigidity, finger flexion constractures and distal wasting in upper/lower limbs.
Patient 2 - onset 8 years old with muscle stiffness in lower limbs and distal wasting at 12 years old.
Patient 3 - lower limb deformity at 7 years old with declining mobility by 11 years of age.
Patient 4 - Unknown onset but wheelchair bound by 14 years old.

PMID: 30061062 - 1 patient with a de novo mutation, and childhood onset proximal muscle weakness and atrophy, with elevated CK.
Sources: Expert list
Created: 29 Jun 2020, 2:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Myopathy, myofibrillar, 6 612954

Publications

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, dilated, 1HH; Myopathy, myofibrillar, 6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, myofibrillar, 6 612954
OMIM
603883
Clinvar variants
Variants in BAG3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bag3 has been classified as Green List (High Evidence).

29 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bag3 has been classified as Green List (High Evidence).

29 Jun 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

gene: BAG3 was added gene: BAG3 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BAG3 were set to PMID: 25208129; 22734908; 30061062 Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6 612954 Review for gene: BAG3 was set to GREEN