Familial pulmonary fibrosis
Gene: HPS1Comment on phenotypes: Added phenotype suggested by expert reviewerCreated: 27 Apr 2017, 3:19 p.m.
HP type 1 associated with pulmonary fibrosis.Created: 26 Apr 2017, 9:23 a.m.
The pulmonary fibrosis of HPS typically causes symptoms in the thirties and is usually fatal within a decade. 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-2Created: 8 Feb 2017, 7:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 1 203300
Publications
Publications for gene: HPS1 were set to 8896559, 20301464
Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Phenotypes for HPS1 were set to Hermansky-Pudlak syndrome 1, 203300; Pulmonary Fibrosis and Hermansky-Pudlak Syndrome; Pulmonary Disease; Hermansky-Pudlak Syndrome type 1 associated with pulmonary fibrosis
This gene has been classified as Green List (High Evidence).
Publications for HPS1 were set to 8896559, 20301464
Mode of inheritance for HPS1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
HPS1 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory
HPS1 was created by ellenmcdonagh