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| Arthrogryposis v5.25 | SLC18A3 | Achchuthan Shanmugasundram Classified gene: SLC18A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.25 | SLC18A3 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.25 | SLC18A3 | Achchuthan Shanmugasundram Gene: slc18a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.24 | SLC18A3 |
Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: SLC18A3. Tag Q2_24_NHS_review tag was added to gene: SLC18A3. |
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| Arthrogryposis v5.24 | SLC18A3 | Achchuthan Shanmugasundram edited their review of gene: SLC18A3: Changed phenotypes to: Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239, arthrogryposis, MONDO:0008779 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.24 | SLC18A3 | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.23 | SLC18A3 | Achchuthan Shanmugasundram Publications for gene: SLC18A3 were set to 28188302; 27590285; 31059209 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.22 | SLC18A3 | Achchuthan Shanmugasundram reviewed gene: SLC18A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.22 | SLC18A3 | Hannah Knight reviewed gene: SLC18A3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34943989; Phenotypes: Myasthenic syndrome, congenital, 21, presynaptic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.101 | SLC18A3 | Rebecca Foulger Classified gene: SLC18A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.101 | SLC18A3 | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber on advice from Zerin Hyder (Genomics England clinical team): 2 families with strong link to arthrogryposis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.101 | SLC18A3 | Rebecca Foulger Gene: slc18a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.98 | SLC18A3 | Rebecca Foulger Added comment: Comment on publications: PMID:27590285: report individuals from 2 families with biallelic SLC18A3 variants and presynaptic congenital myasthenic syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.98 | SLC18A3 | Rebecca Foulger Publications for gene: SLC18A3 were set to 28188302; 27590285; 31059209 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.97 | SLC18A3 | Rebecca Foulger commented on gene: SLC18A3: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.97 | SLC18A3 | Rebecca Foulger commented on gene: SLC18A3: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.97 | SLC18A3 | Rebecca Foulger Classified gene: SLC18A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.97 | SLC18A3 | Rebecca Foulger Gene: slc18a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.96 | SLC18A3 |
Rebecca Foulger 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 Added comment: Added to panel based on Amber rating on Neuromuscular arthrogryposis panel V0.21 and literature evidence supporting an Arthrogryposis phenotype. Sources: Other, Literature |
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