Interstitial Lung Disease

Gene: HPS1

Green List (high evidence)

HPS1 (HPS1, biogenesis of lysosomal organelles complex 3 subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000107521
EnsemblGeneIds (GRCh37): ENSG00000107521
OMIM: 604982, Gene2Phenotype
HPS1 is in 16 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Interstitial and restrictive lung disease are a feature.
Created: 8 Nov 2021, 12:26 a.m. | Last Modified: 8 Nov 2021, 12:26 a.m.
Panel Version: 0.263

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Well-established gene-disease association.
Created: 6 Nov 2021, 5:21 a.m. | Last Modified: 6 Nov 2021, 5:21 a.m.
Panel Version: 0.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HPS1– oculocutaneous albinism, increased bleeding, lysosomal storage. Childhood pulmonary fibrosis.

Publications

History Filter Activity

8 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hps1 has been classified as Green List (High Evidence).

8 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HPS1 were changed from to Hermansky-Pudlak syndrome 1, MIM# 203300; Childhood pulmonary fibrosis

8 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HPS1 were set to

8 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HPS1 was added gene: HPS1 was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HPS1 was set to Unknown