Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
TRPV4 Transient receptor potential cation channel, subfamily V, member 4       | 12q23-q24 | * Scapuloperoneal spinal muscular atrophy - SPSMA (12.11, 12.31, 14.57)* Spinal muscular atrophy, congenital benin, with contractures - SMAL (12.11, 12.31, 14.57)* Spinal muscular atrophy congenital non progressive of lower limbs - SMAL (12.11, 12.31, 14.57)* Neuronopathy, distal hereditary motor, type VIII - HMN8 (12.11, 12.31, 14.57) |