Hereditary Neuropathy_CMT - isolated
Gene: SLC5A7
Distal hereditary motor neuronopathy type VIIa is an autosomal dominant neurologic disorder characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve.
At least 3 unrelated families reported, animal model.
Note bi-allelic variants are associated with congenital myasthenic syndrome.Created: 13 May 2021, 10:20 a.m. | Last Modified: 13 May 2021, 10:20 a.m.
Panel Version: 0.165
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580; MONDO:0008024
Publications
Gene: slc5a7 has been classified as Green List (High Evidence).
Phenotypes for gene: SLC5A7 were changed from Neuronopathy, distal hereditary motor, type VIIA to Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580; MONDO:0008024
Publications for gene: SLC5A7 were set to
gene: SLC5A7 was added gene: SLC5A7 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SLC5A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC5A7 were set to Neuronopathy, distal hereditary motor, type VIIA