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  3. SLC18A3
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Congenital Myasthenia

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 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families with bi-allelic variants and a mouse model support gene-disease association. Fetal akinesia reported in association with LOF variants.
Created: 23 Oct 2020, 9:31 a.m. | Last Modified: 23 Oct 2020, 9:31 a.m.
Panel Version: 0.33

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 21, presynaptic, MIM#617239

Publications

Created: 23 Oct 2020, 9:31 a.m.
Last Modified: 23 Oct 2020, 9:31 a.m.
Panel version: 0.33

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • ophthalmopleggia and apnea
  • Myasthenic syndrome, congenital, 21, presynaptic, 617239
OMIM
600336
Clinvar variants
Variants in SLC18A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc18a3 has been classified as Green List (High Evidence).

23 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC18A3 were set to

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC18A3 was added gene: SLC18A3 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC18A3 were set to ophthalmopleggia and apnea; Myasthenic syndrome, congenital, 21, presynaptic, 617239