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| DDG2P v3.12 | GOT2 | Achchuthan Shanmugasundram reviewed gene: GOT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31422819; Phenotypes: Malate-Aspartate Shuttle-Related Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASPA | Achchuthan Shanmugasundram reviewed gene: ASPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 8088831, 8659549, 12638939, 7668285, 7599639, 8252036, 10564886, 10909858, 8023850, 16437572; Phenotypes: CANAVAN DISEASE, OMIM:271900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASNS | Achchuthan Shanmugasundram reviewed gene: ASNS: Rating: GREEN; Mode of pathogenicity: ; Publications: 24139043, 27743885, 32255274, 28776279, 27268761, 31720226, 30978478, 27522229, 25227173, 27469131, 29375865, 29279279, 31123592, 32481472, 25663424, 30057589, 27422383; Phenotypes: Asparagine synthetase deficiency, OMIM:615574; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AGA | Achchuthan Shanmugasundram reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 1765378, 8776587, 6883788; Phenotypes: ASPARTYLGLUCOSAMINURIA, OMIM:208400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ASPA | Achchuthan Shanmugasundram Publications for gene: ASPA were updated from 8252036; 8023850; 8088831; 7599639; 16437572; 7668285; 10909858; 12638939; 10564886; 8659549 to 8088831; 8659549; 12638939; 7599639; 8252036; 10564886; 10909858; 7668285; 8023850; 16437572 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ASNS |
Achchuthan Shanmugasundram gene: ASNS was added gene: ASNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASNS were set to 24139043; 27743885; 32255274; 28776279; 27268761; 31720226; 30978478; 27522229; 25227173; 27469131; 29375865; 29279279; 31123592; 32481472; 25663424; 30057589; 27422383 Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, OMIM:615574 |
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| DDG2P v1.129 | GOT2 |
Rebecca Foulger gene: GOT2 was added gene: GOT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GOT2 were set to 31422819 Phenotypes for gene: GOT2 were set to Malate-Aspartate Shuttle-Related Encephalopathy Mode of pathogenicity for gene: GOT2 was set to Other - please provide details in the comments |
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| DDG2P v0.2 | ASPA | Rebecca Foulger reviewed gene: ASPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ASPA |
Rebecca Foulger gene: ASPA was added gene: ASPA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPA were set to 8252036; 8023850; 8088831; 7599639; 16437572; 7668285; 10909858; 12638939; 10564886; 8659549 Phenotypes for gene: ASPA were set to CANAVAN DISEASE 271900 |
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| DDG2P v0.1 | AGA |
Rebecca Foulger gene: AGA was added gene: AGA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGA were set to 6883788; 1765378; 8776587 Phenotypes for gene: AGA were set to ASPARTYLGLUCOSAMINURIA 208400 |
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