Congenital myaesthenic syndrome

Gene: SLC18A3

Green List (high evidence)

SLC18A3 (solute carrier family 18 member A3)
EnsemblGeneIds (GRCh38): ENSG00000187714
EnsemblGeneIds (GRCh37): ENSG00000187714
OMIM: 600336, Gene2Phenotype
SLC18A3 is in 4 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; ophthalmopleggia and apnea; Myasthenic syndrome, congenital, 21, presynaptic, 617239

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Grey to Green: 1 green review from expert, plus 2 unrelated cases with addition of mouse model.
Created: 7 Feb 2017, 4:23 p.m.
Mouse model: 2 mouse models of reduced SLC18A3 expression (knockout and knockdown) provide support for SLC18A3 as a genetic cause of presynaptic congenital myasthenic syndrome (PMID:16950158, PMID:24260111).
Created: 7 Feb 2017, 4:18 p.m.
PMID:27590285 (O'Grady et al., 2016) identify biallelic variants in SLC18A3 in 2 unrelated individuals presenting with features seen in presynaptic congenital myasthenic syndrome. Patient 1 was born to unaffected nonconsanguineous Filipino parents and carries a deletion of CHAT and SLC18A3 on 1 allele, and a missense variant c.557 G>C; p.(Gly186Ala) in SLC18A3 on the second allele; his mother was heterozygous for Gly186Ala, and DNA from the father was unavailable.
Patient 2 was the only child of consanguineous East Turkish parents and carried a homozygous recessive missense variant, c.1192G>C, p.(Asp398His); both parents were heterozygous for the mutation.
Created: 2 Feb 2017, 3:16 p.m.
Comment on mode of inheritance: Mode of inheritance supported by OMIM and PMID:27590285.
Created: 2 Feb 2017, 3:10 p.m.

David Beeson (Oxford University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndrome; ophthalmopleggia and apnea

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome
  • ophthalmopleggia and apnea
  • Myasthenic syndrome, congenital, 21, presynaptic, 617239
OMIM
600336
Clinvar variants
Variants in SLC18A3
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: SLC18A3 were set to PMID: 27590285

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SLC18A3.

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 SLC18A3. 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.

7 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 SLC18A3 was changed to BIALLELIC, autosomal or pseudoautosomal

2 Feb 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for SLC18A3 were set to Congenital myasthenic syndrome; ophthalmopleggia and apnea; Myasthenic syndrome, congenital, 21, presynaptic, 617239

27 Jan 2017, Gel status: 0

Added New Source

David Beeson (Oxford University)

SLC18A3 was added to Congenital myaestheniapanel. Sources: Eligibility statement prior genetic testing

27 Jan 2017, Gel status: 0

Created

David Beeson (Oxford University)

SLC18A3 was created by [email protected]