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Ocular and Oculocutaneous Albinism v1.5 AP3B1 Zornitza Stark Tag treatable tag was added to gene: AP3B1.
Tag clinical trial tag was added to gene: AP3B1.
Ocular and Oculocutaneous Albinism v0.20 AP3B1 Zornitza Stark Marked gene: AP3B1 as ready
Ocular and Oculocutaneous Albinism v0.20 AP3B1 Zornitza Stark Gene: ap3b1 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.20 AP3B1 Zornitza Stark Phenotypes for gene: AP3B1 were changed from to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997
Ocular and Oculocutaneous Albinism v0.19 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to
Ocular and Oculocutaneous Albinism v0.18 AP3B1 Zornitza Stark Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.17 AP3B1 Zornitza Stark reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10024875, 11809908, 14566336; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233, MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.0 AP3B1 Zornitza Stark gene: AP3B1 was added
gene: AP3B1 was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AP3B1 was set to Unknown