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| Thiamine metabolism dysfunction syndrome 2 v1.2 | SLC19A3 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #607483) and the OMIM record was last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thiamine metabolism dysfunction syndrome 2 v1.2 | SLC19A3 | Achchuthan Shanmugasundram Phenotypes for gene: SLC19A3 were changed from to Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type), OMIM:607483; biotin-responsive basal ganglia disease, MONDO:0011841 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thiamine metabolism dysfunction syndrome 2 v0.1 | SLC19A3 | Achchuthan Shanmugasundram reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thiamine metabolism dysfunction syndrome 2 v0.1 | SLC19A3 |
Achchuthan Shanmugasundram gene: SLC19A3 was added gene: SLC19A3 was added to Thiamine metabolism dysfunction syndrome 2. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal |
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