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COVID-19 research v0.40 | AP3D1 |
Ellen McDonagh Source Expert Review Green was added to AP3D1. Added phenotypes neutropenia; Immunodeficient HPS; seizures; Diseases of Immune Dysregulation; Hermansky-Pudlak syndrome with neutropenia; neuordevelopmental delay; albinism; ?Hermansky-Pudlak syndrome 10, 617050; Hermansky-Pudlak syndrome; Oculocutaneous albinism, recurrent infections, seizures, hearing loss and neurodevelopmental delay; Oculocutaneous albinism, severe neutropenia, recurrent infections, seizures, hearing loss and neurodevelopmental delay; HSP10 for gene: AP3D1 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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COVID-19 research v0.36 | AP3D1 |
Ellen McDonagh gene: AP3D1 was added gene: AP3D1 was added to Viral susceptibility. Sources: Expert Review Red,Literature,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP3D1 were set to 26744459; 32086639; 32048120 Phenotypes for gene: AP3D1 were set to neutropenia; Immunodeficient HPS; seizures; Diseases of Immune Dysregulation; Hermansky-Pudlak syndrome with neutropenia; neuordevelopmental delay; albinism; ?Hermansky-Pudlak syndrome 10, 617050; Hermansky-Pudlak syndrome; Oculocutaneous albinism, recurrent infections, seizures, hearing loss and neurodevelopmental delay; Oculocutaneous albinism, severe neutropenia, recurrent infections, seizures, hearing loss and neurodevelopmental delay; HSP10 |