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 (12.30, 12.39, 14.50)* Spinal muscular atrophy, congenital benin, with contractures - SMAL (12.30, 12.39, 14.50)* Spinal muscular atrophy congenital non progressive of lower limbs - SMAL (12.30, 12.39, 14.50)* Neuronopathy, distal hereditary motor, type VIII - HMN8 (12.30, 12.39, 14.50) |