Gene table



Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

B3GALNT2
Beta-1,3-N-acetylgalacto-saminyltransferase 2



1q42.3
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li - MDDGA11 (2.37)

B3GNT1
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyl-transferase 1



11q13.2
* Walker-Warburg syndrome (WWS) - MDDGA13 (2.27)

B4GALNT1
beta-1,4-N-acetyl-galactosaminyl transferase 1



12q13.3
* Spastic paraplegia 26 - SPG26 (15.31)

BAG3
BCL2-associated athanogene 3



10q25.2-q26.2
* myofibrillar myopathy with bag3 defect - (5.9)

BEAN1
Brain expressed, associated with Nedd42



16q21
* spinocerebellar ataxia-31 - SCA31 (13.29)

BICD2
Bicaudal D homolog 2 (Drosophila)



9q22.31
* Spinal muscular atrophy, lower extremity, autosomal dominant 2 - SMALED2 (12.27)

BIN1
Amphiphysin



2q14
* Centronuclear myopathy, related to BIN1, recessive - (3.18, 3.19)
* Centronuclear myopathy, related to BIN1, dominant - (3.18, 3.19)

BSCL2
Seipin



11q12-q13.5
* Neuronopathy, distal hereditary motor, type V - HMN5 (12.15, 15.9)
* Spastic paraplegia 17 - SPG17 (12.15, 15.9)

BVES
blood vessel epicardial substance



6q21
* Limb-Girdle, Muscular dystrophy, type 2X - LGMD2X (1.44)