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| DDG2P v3.12 | GALT | Achchuthan Shanmugasundram reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: ; Publications: 9012409, 1610789, 2233247, 1897530, 10439960, 2011574, 8869397, 9222760; Phenotypes: GALACTOSEMIA, OMIM:230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | B4GALT7 | Achchuthan Shanmugasundram reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: ; Publications: 3631078, 15211654; Phenotypes: EHLERS-DANLOS SYNDROME PROGEROID TYPE, OMIM:130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | B4GALT1 | Achchuthan Shanmugasundram reviewed gene: B4GALT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32157688, 21920538, 11901181; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId, OMIM:607091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | B3GALT6 | Achchuthan Shanmugasundram reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: ; Publications: 23664117; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1, OMIM:271640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GALT | Achchuthan Shanmugasundram Publications for gene: GALT were updated from 2011574; 10439960; 9012409; 9222760; 8869397; 1610789; 2233247; 1897530 to 9012409; 1610789; 2233247; 1897530; 10439960; 2011574; 8869397; 9222760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | B4GALT1 |
Achchuthan Shanmugasundram gene: B4GALT1 was added gene: B4GALT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: B4GALT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALT1 were set to 32157688; 21920538; 11901181 Phenotypes for gene: B4GALT1 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId, OMIM:607091 |
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| DDG2P v0.2 | GALT | Rebecca Foulger reviewed gene: GALT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | B4GALT7 | Rebecca Foulger reviewed gene: B4GALT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | B3GALT6 | Rebecca Foulger reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GALT |
Rebecca Foulger gene: GALT was added gene: GALT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALT were set to 2011574; 10439960; 9012409; 9222760; 8869397; 1610789; 2233247; 1897530 Phenotypes for gene: GALT were set to GALACTOSEMIA 230400 |
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| DDG2P v0.1 | B4GALT7 |
Rebecca Foulger gene: B4GALT7 was added gene: B4GALT7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALT7 were set to 3631078; 15211654 Phenotypes for gene: B4GALT7 were set to EHLERS-DANLOS SYNDROME PROGEROID TYPE 130070 |
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| DDG2P v0.1 | B3GALT6 |
Rebecca Foulger Added phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1 271640 for gene: B3GALT6 Publications for gene B3GALT6 were changed from to 23664117 |
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| DDG2P v0.1 | B3GALT6 |
Rebecca Foulger gene: B3GALT6 was added gene: B3GALT6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GALT6 were set to EHLERS-DANLOS SYNDROME 130070 |
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