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| BabyScreen+ newborn screening v1.29 | AP3D1 | Zornitza Stark Marked gene: AP3D1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.29 | AP3D1 | Zornitza Stark Gene: ap3d1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.29 | AP3D1 | Zornitza Stark Classified gene: AP3D1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.29 | AP3D1 | Zornitza Stark Gene: ap3d1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.28 | AP3D1 |
Zornitza Stark gene: AP3D1 was added gene: AP3D1 was added to BabyScreen+ newborn screening. Sources: Expert list treatable, haematological tags were added to gene: AP3D1. Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP3D1 were set to 26744459; 9697856; 30472485; 36445457 Phenotypes for gene: AP3D1 were set to Hermansky-Pudlak syndrome 10, MIM# 617050 Review for gene: AP3D1 was set to AMBER Added comment: Four individuals from two unrelated families and a mouse model. Borderline gene-disease association. New case report 36445457, proband presenting with SNHL and questionable other subtle features of HPS, homozygous missense variant (VOUS). Onset in infancy. Treatable: BMT for immunodeficiency. Sources: Expert list |
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