Paediatric motor neuronopathies
Gene: SLC5A7EnsemblGeneIds (GRCh38): ENSG00000115665
EnsemblGeneIds (GRCh37): ENSG00000115665
OMIM: 608761, Gene2Phenotype
SLC5A7 is in 8 panels
2 reviews
Pinki Munot (Consultant )
single large pedigree with dominant inheritance.
recessive loss of function mutations cause congenital myasthenic syndrome with episodic apnoea -27569547Created: 2 Mar 2017, 6:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
distal motor neurnopathy
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Alice Gardham (Genomics England)
Mutations only reported in one familyCreated: 26 Jan 2017, 2:17 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuronopathy, distal hereditary motor, type VIIA 158580
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- UKGTN
- Phenotypes
-
- Neuronopathy, distal hereditary motor, type VIIA 158580
- OMIM
- 608761
- Clinvar variants
- Variants in SLC5A7
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Alice Gardham (Genomics England)SLC5A7 was added to Paediatric motor neuronopathiespanel. Sources: UKGTN,Literature
Created
Alice Gardham (Genomics England)SLC5A7 was created by agardham