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| Aminoacidopathy v1.95 | SLC25A15 |
Sangavi Sivagnanasundram gene: SLC25A15 was added gene: SLC25A15 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A15 were set to 25874378 Phenotypes for gene: SLC25A15 were set to ornithine translocase deficiency MONDO:0009393 (HHH Syndrome) Review for gene: SLC25A15 was set to GREEN Added comment: Well established gene-disease association with reported individuals presenting with a biochemical triad of abnormalities - hyperornithinemia, hyperammonemia, and homocitrullinuria (severity of the clinical symptoms can vary). Common variants in individuals with HHH syndrome p.Phe188del French Canadian Founder - NFE GrpMax AF - 0.004% (reported in 62 hets globally) p.Arg179X Commonly seen in Japanese patients - EAS GrpMax AF - 0.017% (reported in 26 hets globally) Classified Definitive by Aminoacidopathy GCEP on 04/12/2019 -https://search.clinicalgenome.org/CCID:006162 Sources: ClinGen |
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| Aminoacidopathy v1.18 | ARG1 | Zornitza Stark Marked gene: ARG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.18 | ARG1 | Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.18 | ARG1 | Zornitza Stark Publications for gene: ARG1 were set to 16747805, 23859858, 1463019, 1598908, 12052859, 23920045 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.17 | ARG1 | Zornitza Stark Classified gene: ARG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.17 | ARG1 | Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.9 | ARG1 |
Sangavi Sivagnanasundram gene: ARG1 was added gene: ARG1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARG1 were set to 16747805, 23859858, 1463019, 1598908, 12052859, 23920045 Phenotypes for gene: ARG1 were set to hyperargininemia MONDO:0008814 Review for gene: ARG1 was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:004163 Reported in >5 unrelated probands with manifestations of hyperammonemia and hyperargininemia. It is an inborn error of L-arginine metabolism. Two knock out mouse models have been conducted attesting to the LoF mechanism of disease. Sources: ClinGen |
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