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| DDG2P v3.12 | BUB1B | Achchuthan Shanmugasundram reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 21190457, 9916837, 16411201, 11169558, 15475955; Phenotypes: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, OMIM:257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BUB1 | Achchuthan Shanmugasundram reviewed gene: BUB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35044816; Phenotypes: BUB1-related microcephaly and developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BUB1B | Achchuthan Shanmugasundram Publications for gene: BUB1B were updated from 9916837; 21190457; 16411201; 11169558; 15475955 to 21190457; 9916837; 16411201; 11169558; 15475955 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BUB1 |
Achchuthan Shanmugasundram gene: BUB1 was added gene: BUB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BUB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BUB1 were set to 35044816 Phenotypes for gene: BUB1 were set to BUB1-related microcephaly and developmental disorder |
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| DDG2P v0.2 | BUB1B | Rebecca Foulger reviewed gene: BUB1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | BUB1B |
Rebecca Foulger gene: BUB1B was added gene: BUB1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BUB1B were set to 9916837; 21190457; 16411201; 11169558; 15475955 Phenotypes for gene: BUB1B were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 257300 |
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