Adult onset neurodegenerative disorder
Gene: SLC5A7EnsemblGeneIds (GRCh38): ENSG00000115665
EnsemblGeneIds (GRCh37): ENSG00000115665
OMIM: 608761, Gene2Phenotype
SLC5A7 is in 9 panels
1 review
Oliver Ziff (University College London)
Dominant negative variants cause a distal hereditary motor neuropathy (dHMN7A) mimicking progressive isolated LMN degeneration. mimics LMN-predominant MND, necessitating upfront screening. Inclusion prevents sequential WGS reanalysis on R460.1 requests.
Sources: Expert Review, LiteratureCreated: 22 May 2026, 1:18 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuronopathy, distal hereditary motor, type VIIA
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- Neuronopathy, distal hereditary motor, type VIIA
- OMIM
- 608761
- Clinvar variants
- Variants in SLC5A7
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Oliver Ziff (University College London)gene: SLC5A7 was added gene: SLC5A7 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: SLC5A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC5A7 were set to 29782645; 23141292 Phenotypes for gene: SLC5A7 were set to Neuronopathy, distal hereditary motor, type VIIA Penetrance for gene: SLC5A7 were set to Complete Mode of pathogenicity for gene: SLC5A7 was set to Other Review for gene: SLC5A7 was set to GREEN gene: SLC5A7 was marked as current diagnostic