Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
BAG3
BCL2-associated athanogene 3
10q25.2-q26.2
 | myofibrillar myopathy with bag3 defect - |
BIN1
amphiphysin
2q14
| box-dependent myc-interacting protein 1 -BIN1 |
| centronuclear myopathy, recessive -BIN1 |
BSCL2
seipin
11q12-q13.5
| Spastic paraplegia 17 -SPG17 |
| Neuronopathy, distal hereditary motor, type V -HMN5 |