Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: BAG3Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.Created: 28 Nov 2019, 5:17 p.m. | Last Modified: 28 Nov 2019, 5:17 p.m.
Panel Version: 1.163
Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.Created: 28 Nov 2019, 5:17 p.m. | Last Modified: 28 Nov 2019, 5:17 p.m.
Panel Version: 1.162
currently provided through LGMD panel at HSS LGMD in Ncl. Rare and severe form of myopathy with proximal and distal weakness.Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, myofibrillar, 6, 612954
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: bag3 has been classified as Green List (High Evidence).
Mode of inheritance for gene: BAG3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: bag3 has been classified as Green List (High Evidence).
Source NHS GMS was added to BAG3.
Source Yorkshire and North East GLH was added to BAG3.
Mode of inheritance for gene BAG3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Myopathy, myofibrillar, 6, 612954 for gene: BAG3 Publications for gene BAG3 were changed from to 19085932; 20605452
gene: BAG3 was added gene: BAG3 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: BAG3 was set to