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| Aminoacidopathy v1.126 | SLC25A13 | Zornitza Stark Marked gene: SLC25A13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.126 | SLC25A13 | Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.126 | SLC25A13 | Zornitza Stark Classified gene: SLC25A13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.126 | SLC25A13 | Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.95 | SLC25A13 |
Sangavi Sivagnanasundram gene: SLC25A13 was added gene: SLC25A13 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A13 were set to 18367750; 10369257; 19036621; 18392553; 11343053; 31607264 Phenotypes for gene: SLC25A13 were set to citrin deficiency MONDO:0016602 Review for gene: SLC25A13 was set to GREEN Added comment: Established gene-disease association with variants reported in >10 probands with reported biochemical abnormalities. Variants in this gene have been reported in both adult onset citrullinemia type 2 but also in individuals with neonatal intrahepatic cholestasis. Mechanism of disease is biallelic loss of function - significantly reduced or absent glutamate transport in and aspartate transport out of mitochondria depriving argininosuccinate synthetase leading to the accumulation of citrulline and ammonia. Classified Definitive by Aminoacidopathy GCEP on 23/07/2021 - https://search.clinicalgenome.org/CCID:006161 Sources: ClinGen |
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