Familial pulmonary fibrosis

Gene: HPS4

Green List (high evidence)

HPS4 (HPS4, biogenesis of lysosomal organelles complex 3 subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000100099
EnsemblGeneIds (GRCh37): ENSG00000100099
OMIM: 606682, Gene2Phenotype
HPS4 is in 10 panels

2 reviews

Philip Molyneaux (Imperial College)

Green List (high evidence)

HP type 4 associated with pulmonary fibrosis.
Created: 26 Apr 2017, 9:23 a.m.

Alice Gardham (Genomics England)

Green List (high evidence)

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-2
Created: 8 Feb 2017, 7:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 4 614073

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Hermansky-Pudlak syndrome, 4, 614073
  • Pulmonary Fibrosis and Hermansky-Pudlak Syndrome
  • Pulmonary Disease
  • Hermansky-Pudlak Syndrome type 4, associated with pulmonary fibrosis
OMIM
606682
Clinvar variants
Variants in HPS4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017

27 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for HPS4 were set to Hermansky-Pudlak syndrome, 4, 614073;Pulmonary Fibrosis and Hermansky-Pudlak Syndrome; Pulmonary Disease; Hermansky-Pudlak Syndrome type 4, associated with pulmonary fibrosis

8 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

8 Feb 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for HPS4 were set to 11836498, 20301464

8 Feb 2017, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for HPS4 was changed to BIALLELIC, autosomal or pseudoautosomal

8 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HPS4 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HPS4 was created by ellenmcdonagh