Congenital myaesthenic syndrome

Gene: SLC5A7

Green List (high evidence)

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

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 30 Apr 2019, 9:30 a.m.

Michael Oldridge (NHS)

Green List (high evidence)

see PanelApp
Created: 29 Apr 2019, 4:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndrome; Hereditory motor neuropathy; Myasthenic syndrome, congenital, 20, presynaptic, 617143

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Grey to Green. 1 green review (from gene submitter) plus >3 unrelated cases of SLC5A7 mutations causing congenital myasthenia (PMID:27569547).
Created: 2 Feb 2017, 3:33 p.m.
In 7 patients, including 2 siblings, with congenital myasthenic syndrome-20 (CMS20; 617143), Bauche et al., 2016 (PMID:27569547) identified biallelic mutations in the SLC5A7 gene- probands include French and Algerian patients.
Created: 2 Feb 2017, 3:31 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.
Created: 2 Feb 2017, 3:23 p.m.

David Beeson (Oxford University)

Green List (high evidence)

Screening available through Oxford congenital myasthenia service
Created: 27 Jan 2017, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndrome; Hereditory motor neuropathy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome
  • Hereditory motor neuropathy
  • Myasthenic syndrome, congenital, 20, presynaptic, 617143
OMIM
608761
Clinvar variants
Variants in SLC5A7
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SLC5A7 were set to PMID: 27569547; PMID: 23141292 ; PMID: 26786006

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SLC5A7.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to SLC5A7. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

2 Feb 2017, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for SLC5A7 was changed to BIALLELIC, autosomal or pseudoautosomal

2 Feb 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for SLC5A7 were set to Congenital myasthenic syndrome; Hereditory motor neuropathy; Myasthenic syndrome, congenital, 20, presynaptic, 617143

27 Jan 2017, Gel status: 0

Created

David Beeson (Oxford University)

SLC5A7 was created by [email protected]

27 Jan 2017, Gel status: 0

Added New Source

David Beeson (Oxford University)

SLC5A7 was added to Congenital myaestheniapanel. Sources: Eligibility statement prior genetic testing