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| DDG2P v3.12 | BLOC1S6 | Achchuthan Shanmugasundram reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: ; Publications: 21665000, 22461475; Phenotypes: HERMANSKY-PUDLAK SYNDROME 9, OMIM:614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BLOC1S6 |
Achchuthan Shanmugasundram Source Expert Review Green was added to BLOC1S6. Publications for gene: BLOC1S6 were updated from 21665000 to 21665000; 22461475 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | BLOC1S6 | Rebecca Foulger reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | BLOC1S6 |
Rebecca Foulger gene: BLOC1S6 was added gene: BLOC1S6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLOC1S6 were set to 21665000 Phenotypes for gene: BLOC1S6 were set to HERMANSKY-PUDLAK SYNDROME 9 614171 |
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