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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 | MMADHC | Achchuthan Shanmugasundram reviewed gene: MMADHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD, OMIM:277410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | MMACHC | Achchuthan Shanmugasundram reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: 20631720, 16311595, 16714133, 25687216, 11320193; Phenotypes: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, OMIM:277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | MMAB | Achchuthan Shanmugasundram reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 12471062; Phenotypes: METHYLMALONIC ACIDURIA TYPE CBLB, OMIM:251110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | MMAA | Achchuthan Shanmugasundram reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 12438653; Phenotypes: METHYLMALONIC ACIDURIA TYPE CBLA, OMIM:251100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | LMBRD1 | Achchuthan Shanmugasundram reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19136951; Phenotypes: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF, OMIM:277380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | CBL | Achchuthan Shanmugasundram reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20694012, 20543203, 20619386; Phenotypes: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA, OMIM:613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | ABCD4 | Achchuthan Shanmugasundram reviewed gene: ABCD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 22922874; Phenotypes: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, OMIM:614857; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | CBL |
Achchuthan Shanmugasundram Mode of pathogenicity for gene CBL was changed from Other - please provide details in the comments to Other Publications for gene: CBL were updated from 20694012; 20619386; 20543203 to 20694012; 20543203; 20619386 |
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DDG2P v0.2 | CBL | Rebecca Foulger reviewed gene: CBL: 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 | MMADHC |
Rebecca Foulger gene: MMADHC was added gene: MMADHC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMADHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD 277410 |
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DDG2P v0.1 | MMACHC |
Rebecca Foulger gene: MMACHC was added gene: MMACHC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 16311595; 16714133; 11320193; 20631720 Phenotypes for gene: MMACHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE 277400 |
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DDG2P v0.1 | MMAB |
Rebecca Foulger gene: MMAB was added gene: MMAB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMAB were set to 12471062 Phenotypes for gene: MMAB were set to METHYLMALONIC ACIDURIA TYPE CBLB 251110 |
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DDG2P v0.1 | MMAA |
Rebecca Foulger gene: MMAA was added gene: MMAA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMAA were set to 12438653 Phenotypes for gene: MMAA were set to METHYLMALONIC ACIDURIA TYPE CBLA 251100 |
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DDG2P v0.1 | LMBRD1 |
Rebecca Foulger gene: LMBRD1 was added gene: LMBRD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMBRD1 were set to 19136951 Phenotypes for gene: LMBRD1 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF 277380 |
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DDG2P v0.1 | CBL |
Rebecca Foulger gene: CBL was added gene: CBL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CBL were set to 20694012; 20619386; 20543203 Phenotypes for gene: CBL were set to NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA 613563 Mode of pathogenicity for gene: CBL was set to Other - please provide details in the comments |
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DDG2P v0.1 | ABCD4 |
Rebecca Foulger gene: ABCD4 was added gene: ABCD4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCD4 were set to 22922874 Phenotypes for gene: ABCD4 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE 614857 |