Arthrogryposis
Gene: SLC18A3
Comment on list classification: As reviewed by Hannah Knight, PMID:34943989 reports an additional patient with compound heterozygous variants in SLC18A3 gene and presenting with arthrogryposis congenital (AMC). Hence, there is sufficient evidence available for promoting this gene to green rating in the next GMS review.Created: 24 Apr 2024, 5:12 p.m. | Last Modified: 24 Apr 2024, 5:12 p.m.
Panel Version: 5.25
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239; arthrogryposis, MONDO:0008779
PMID: 34943989 report a new case in a child with contractures, among other features. One nonsense variant, one missense variant. They suggest a more severe phenotype to those previously reported "possibly related to a more severe effect of the nonsense variant"Created: 17 Apr 2024, 2:06 p.m. | Last Modified: 17 Apr 2024, 2:06 p.m.
Panel Version: 5.22
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 21, presynaptic
Publications
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, 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).
Tag Q2_24_promote_green tag was added to gene: SLC18A3. Tag Q2_24_NHS_review tag was added to gene: SLC18A3.
Phenotypes for gene: SLC18A3 were changed from Myasthenic syndrome, congenital, 21, presynaptic, 617239; arthrogryposis to Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239; arthrogryposis, MONDO:0008779
Publications for gene: SLC18A3 were set to 28188302; 27590285; 31059209
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