Interstitial Lung Disease
Gene: HPS6EnsemblGeneIds (GRCh38): ENSG00000166189
EnsemblGeneIds (GRCh37): ENSG00000166189
OMIM: 607522, Gene2Phenotype
HPS6 is in 14 panels
1 review
Suzanna Lindsey-Temple (Liverpool Hospital)
A single report describes a paediatric patient with a HPS6 variant and pulmonary complications. A now 12yo girl with HPS6, at the age of 3 developed severe pneumococcal pneumonia with bronchopleural fistula. Diagnostic and therapeutic thoracotomy with lung segment resection was complicated by hemorrhagic pleural effusion. She had ongoing mild restriction due to the former segment resection without signs of fibrosis and no other evidence of immunodeficiency. She had a novel homozygous HPS6 frameshift variant (c.1919_1920delTC; p.Val640Glyfs*29) and unaffected heterozygous parents.
PMID: 27917594Created: 6 Nov 2021, 5:35 a.m. | Last Modified: 6 Nov 2021, 5:35 a.m.
Panel Version: 0.183
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HPS6– oculocutaneous albinism, minor bleeding, lysosomal storage
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hermansky-Pudlak syndrome 6, MIM# 614075
- OMIM
- 607522
- Clinvar variants
- Variants in HPS6
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Ocular and Oculocutaneous Albinism
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Vasculitis
- Congenital nystagmus
- Cataract
- Prepair 500+
- Interstitial Lung Disease
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hps6 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: HPS6 were changed from to Hermansky-Pudlak syndrome 6, MIM# 614075
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: HPS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hps6 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: HPS6 was added gene: HPS6 was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HPS6 was set to Unknown