Congenital myaesthenic syndrome
Gene: SLC5A7
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.
see PanelAppCreated: 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
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.
Screening available through Oxford congenital myasthenia serviceCreated: 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
Publications for gene: SLC5A7 were set to 27569547; 23141292; 26786006
Phenotypes for gene: SLC5A7 were changed from Congenital myasthenic syndrome; Hereditory motor neuropathy; Myasthenic syndrome, congenital, 20, presynaptic, 617143 to Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143
Publications for gene: SLC5A7 were set to PMID: 27569547; PMID: 23141292 ; PMID: 26786006
Source NHS GMS was added to SLC5A7.
Source Wessex and West Midlands GLH was added to SLC5A7. Rating Changed from Green List (high evidence) to Green List (high evidence)
22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SLC5A7 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for SLC5A7 were set to Congenital myasthenic syndrome; Hereditory motor neuropathy; Myasthenic syndrome, congenital, 20, presynaptic, 617143
SLC5A7 was created by [email protected]
SLC5A7 was added to Congenital myaestheniapanel. Sources: Eligibility statement prior genetic testing