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| Short QT syndrome v0.8 | SLC22A5 | Zornitza Stark Marked gene: SLC22A5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.8 | SLC22A5 | Zornitza Stark Gene: slc22a5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.8 | SLC22A5 | Zornitza Stark Classified gene: SLC22A5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.8 | SLC22A5 | Zornitza Stark Gene: slc22a5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.7 | SLC22A5 | Zornitza Stark Tag disputed tag was added to gene: SLC22A5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.1 | SLC22A5 |
Daniel Flanagan gene: SLC22A5 was added gene: SLC22A5 was added to Short QT syndrome. Sources: Expert Review Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A5 were set to PMID: 34557911 Phenotypes for gene: SLC22A5 were set to Short QT syndrome Review for gene: SLC22A5 was set to RED Added comment: SLC22A5 association with short QT syndrome is disputed by the ClinGen expert panel / PMID: 34557911. Variants in SLC22A5 cause AR primary systemic carnitine deficiency (PSCD). Short QC has been demonstrated in a carnitine-deficient mouse model as well as in patients with PSCD. However, the QT interval in these patients returns to normal with carnitine supplementation treatment, so true SQTS and SLC22A5 is disputed. Sources: Expert Review |
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