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| Mendeliome v1.3104 | SLC38A6 | Bryony Thompson Marked gene: SLC38A6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3104 | SLC38A6 | Bryony Thompson Gene: slc38a6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3104 | SLC38A6 | Bryony Thompson edited their review of gene: SLC38A6: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3104 | SLC38A6 |
Bryony Thompson gene: SLC38A6 was added gene: SLC38A6 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SLC38A6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC38A6 were set to 40931016 Phenotypes for gene: SLC38A6 were set to essential tremor MONDO:0003233 Review for gene: SLC38A6 was set to AMBER Added comment: The study identified SLC38A6 variants in 71 unrelated Chinese ET families (≈9.2% of families) and 47 unrelated sporadic cases, with 15 distinct protein‑altering variants. However, many of the 15 variants are >2% in the East Asian population, which is inconsistent with the incidence of essential tremor in the population (~1%). The study does not contain any statistical enrichment analyses or case-control analyses. It also reports incomplete segregation and non-segregation of variants (called a phenocopy by the authors). A null mouse model (Slc38a6-/-) displays tremor and delineated cerebellar cellular abnormalities. In vitro assessment of 3 of the most common missense variants (p.Y108F [gnomAD total 0.0002; East Asian 0.006, p.M281T [gnomAD total 0.0015; East Asian 0.0227] and p.G318S [gnomAD total 0.0021; East Asian 0.0278]) significantly impaired L-arginine (L-Arg) uptake in HeLa cells. Given the prevalence of the reported variants in the East Asian population, the genetic evidence for this gene-disease association is limited. Sources: Literature |
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