Arthrogryposis
Gene: SLC18A3Comment 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, LiteratureCreated: 28 Nov 2019, 3:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 21, presynaptic, 617239; arthrogryposis
Publications
Gene: slc18a3 has been classified as Amber List (Moderate Evidence).
Publications for gene: SLC18A3 were set to 28188302; 27590285; 31059209
Gene: slc18a3 has been classified as Amber List (Moderate Evidence).
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