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DDG2P v3.12 | PCBD1 | Achchuthan Shanmugasundram reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9585615, 8352282; Phenotypes: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, OMIM:264070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | PCBD1 | Achchuthan Shanmugasundram Publications for gene: PCBD1 were updated from 8352282; 9585615 to 9585615; 8352282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | PCBD1 | Rebecca Foulger reviewed gene: PCBD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | PCBD1 |
Rebecca Foulger gene: PCBD1 was added gene: PCBD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCBD1 were set to 8352282; 9585615 Phenotypes for gene: PCBD1 were set to HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D 264070 |