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Arthrogryposis

Gene: SLC18A3

Amber List (moderate evidence)

SLC18A3 (solute carrier family 18 member A3)
EnsemblGeneIds (GRCh38): ENSG00000187714
EnsemblGeneIds (GRCh37): ENSG00000187714
OMIM: 600336, Gene2Phenotype
SLC18A3 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Amber on advice from Zerin Hyder (Genomics England clinical team): 2 families with strong link to arthrogryposis.
Created: 28 Nov 2019, 4:21 p.m. | Last Modified: 28 Nov 2019, 4:21 p.m.
Panel Version: 2.101
Comment on publications: PMID:27590285: report individuals from 2 families with biallelic SLC18A3 variants and presynaptic congenital myasthenic syndrome.
Created: 28 Nov 2019, 3:52 p.m. | Last Modified: 28 Nov 2019, 3:52 p.m.
Panel Version: 2.98
PMID:28188302 (Aran et al., 2017) report 2 brothers from a nonconsanguineous Yemeni Jewish family manifested at birth with severe hypotonia and arthrogryposis. The brothers were homozygous for missense variant in SLC18A3 c.1078G>C, p.Gly360Arg.
Created: 28 Nov 2019, 3:50 p.m. | Last Modified: 28 Nov 2019, 3:50 p.m.
Panel Version: 2.97
PMID:31059209 (Hakonen et al., 2019) report 2 sibling Finnish fetuses with with fetal akinesia, arthrogryposis, edema, and partial cleft palate and a homozygous variant in SLC18A3: c.1116C>A, p.(Cys372Ter). The parents were distant relatives.
Created: 28 Nov 2019, 3:50 p.m. | Last Modified: 28 Nov 2019, 3:50 p.m.
Panel Version: 2.97
Added to panel based on Amber rating on Neuromuscular arthrogryposis panel V0.21 and literature evidence supporting an Arthrogryposis phenotype.
Sources: Other, Literature
Created: 28 Nov 2019, 3:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 21, presynaptic, 617239; arthrogryposis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Myasthenic syndrome, congenital, 21, presynaptic, 617239
  • arthrogryposis
OMIM
600336
Clinvar variants
Variants in SLC18A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: slc18a3 has been classified as Amber List (Moderate Evidence).

28 Nov 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: SLC18A3 were set to 28188302; 27590285; 31059209

28 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: slc18a3 has been classified as Amber List (Moderate Evidence).

28 Nov 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: SLC18A3 was added gene: SLC18A3 was added to Arthrogryposis. Sources: Other,Literature Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC18A3 were set to 28188302; 27590285; 31059209 Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, 617239; arthrogryposis