Familial pulmonary fibrosis
Gene: AP3B1
Associated with HSP1 and pulmonary fibrosisCreated: 26 Apr 2017, 9:17 a.m.
The pulmonary fibrosis has been described largely in individuals with HPS-1 from northwestern Puerto Rico [Brantly et al 2000, Avila et al 2002], but also occurs in other individuals with HPS-1 [Brantly et al 2000, Hermos et al 2002] or HPS-4 [Anderson et al 2003, Bachli et al 2004] or HPS-2 [Gochuico et al 2012].Created: 8 Feb 2017, 7:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 2 608233
Publications
Publications for gene: AP3B1 were set to 10024875, 20301464
Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Phenotypes for AP3B1 were set to Pulmonary Fibrosis and Hermansky-Pudlak Syndrome; Hermansky-Pudlak syndrome 2, 608233; Pulmonary Disease;Pulmonary fibrosis
This gene has been classified as Green List (High Evidence).
Publications for AP3B1 were set to 10024875, 20301464
Mode of inheritance for AP3B1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
AP3B1 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory
AP3B1 was created by ellenmcdonagh