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| DDG2P v3.12 | BSND | Achchuthan Shanmugasundram reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: ; Publications: 12574213, 11687798, 19646679; Phenotypes: BARTTER SYNDROME TYPE 4A, OMIM:602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BSN | Achchuthan Shanmugasundram reviewed gene: BSN: Rating: RED; Mode of pathogenicity: Other; Publications: 36600631; Phenotypes: BSN-related epilepsy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BSND | Achchuthan Shanmugasundram Publications for gene: BSND were updated from 19646679; 12574213; 11687798 to 12574213; 11687798; 19646679 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BSN |
Achchuthan Shanmugasundram gene: BSN was added gene: BSN was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: BSN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: BSN were set to 36600631 Phenotypes for gene: BSN were set to BSN-related epilepsy Mode of pathogenicity for gene: BSN was set to Other |
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| DDG2P v0.2 | BSND | Rebecca Foulger reviewed gene: BSND: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | BSND |
Rebecca Foulger gene: BSND was added gene: BSND was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BSND were set to 19646679; 12574213; 11687798 Phenotypes for gene: BSND were set to BARTTER SYNDROME TYPE 4A 602522 |
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