Interstitial Lung Disease
Gene: HPS4EnsemblGeneIds (GRCh38): ENSG00000100099
EnsemblGeneIds (GRCh37): ENSG00000100099
OMIM: 606682, Gene2Phenotype
HPS4 is in 15 panels
1 review
Suzanna Lindsey-Temple (Liverpool Hospital)
Most patients develop restrictive lung disease from adolescence.
Over 10 unrelated families reported.Created: 6 Nov 2021, 5:31 a.m. | Last Modified: 6 Nov 2021, 5:31 a.m.
Panel Version: 0.183
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HPS4– oculocutaneous albinism, increased bleeding, lysosomal storage - Childhood pulmonary fibrosis.
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hermansky-Pudlak syndrome 4, MIM# 614073
- Childhood pulmonary fibrosis
- OMIM
- 606682
- Clinvar variants
- Variants in HPS4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Ocular and Oculocutaneous Albinism
- Prepair 1000+
- Pulmonary Fibrosis_Interstitial Lung Disease
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Vasculitis
- Congenital nystagmus
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Additional findings_Paediatric
- Mendeliome
- Cataract
- Prepair 500+
- Interstitial Lung Disease
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hps4 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: HPS4 were changed from to Hermansky-Pudlak syndrome 4, MIM# 614073; Childhood pulmonary fibrosis
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: HPS4 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: HPS4 was added gene: HPS4 was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HPS4 was set to Unknown