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| DDG2P v3.12 | MTRR | Achchuthan Shanmugasundram reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: ; Publications: 15714522, 9501215, 12555939; Phenotypes: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, OMIM:236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MTR | Achchuthan Shanmugasundram reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: ; Publications: 8968737, 12068375, 8968736, 9683607; Phenotypes: METHYLCOBALAMIN DEFICIENCY TYPE G, OMIM:250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MTRR | Achchuthan Shanmugasundram Publications for gene: MTRR were updated from 12555939; 15714522; 9501215 to 15714522; 9501215; 12555939 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MTR | Achchuthan Shanmugasundram Publications for gene: MTR were updated from 8968736; 9683607; 8968737; 12068375 to 8968737; 12068375; 8968736; 9683607 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MTRR | Rebecca Foulger reviewed gene: MTRR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MTR | Rebecca Foulger reviewed gene: MTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MTRR |
Rebecca Foulger gene: MTRR was added gene: MTRR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTRR were set to 12555939; 15714522; 9501215 Phenotypes for gene: MTRR were set to HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE 236270 |
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| DDG2P v0.1 | MTR |
Rebecca Foulger gene: MTR was added gene: MTR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTR were set to 8968736; 9683607; 8968737; 12068375 Phenotypes for gene: MTR were set to METHYLCOBALAMIN DEFICIENCY TYPE G 250940 |
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