Paediatric motor neuronopathies

Gene: SLC5A7

Red List (low evidence)

SLC5A7 (solute carrier family 5 member 7)
EnsemblGeneIds (GRCh38): ENSG00000115665
EnsemblGeneIds (GRCh37): ENSG00000115665
OMIM: 608761, Gene2Phenotype
SLC5A7 is in 10 panels

2 reviews

Pinki Munot (Consultant )

Red List (low evidence)

single large pedigree with dominant inheritance.
recessive loss of function mutations cause congenital myasthenic syndrome with episodic apnoea -27569547
Created: 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)

Red List (low evidence)

Mutations only reported in one family
Created: 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

7 Mar 2017, Gel status: 1

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

26 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

26 Jan 2017, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

SLC5A7 was added to Paediatric motor neuronopathiespanel. Sources: UKGTN,Literature

26 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

SLC5A7 was created by agardham