Hereditary Neuropathy_CMT - isolated
Gene: SLC5A7EnsemblGeneIds (GRCh38): ENSG00000115665
EnsemblGeneIds (GRCh37): ENSG00000115665
OMIM: 608761, Gene2Phenotype
SLC5A7 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580
- MONDO:0008024
- OMIM
- 608761
- Clinvar variants
- Variants in SLC5A7
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc5a7 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC5A7 were changed from Neuronopathy, distal hereditary motor, type VIIA to Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580; MONDO:0008024
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SLC5A7 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)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