Pigmentary skin disorders
Gene: HPS1
HPS1 (HPS1, biogenesis of lysosomal organelles complex 3 subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000107521
EnsemblGeneIds (GRCh37): ENSG00000107521
OMIM: 604982, Gene2Phenotype
HPS1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000107521
EnsemblGeneIds (GRCh37): ENSG00000107521
OMIM: 604982, Gene2Phenotype
HPS1 is in 17 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HERMANSKY-PUDLAK SYNDROME 1; HPS1
Publications
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: HPS1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 11:31 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Hermansky-Pudlak syndrome
- HERMANSKY-PUDLAK SYNDROME 1
- HPS1
- OMIM
- 604982
- Clinvar variants
- Variants in HPS1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- DDG2P
- Familial pulmonary fibrosis
- Pigmentary skin disorders
- COVID-19 research
- Likely inborn error of metabolism
- Pulmonary fibrosis familial
- Albinism or congenital nystagmus
- Inherited bleeding disorders
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Undiagnosed metabolic disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Ocular and oculo-cutaneous albinism
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
12 Dec 2019, Gel status: 3
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes HERMANSKY-PUDLAK SYNDROME 1; HPS1 for gene: HPS1 Publications for gene HPS1 were changed from to 9497254
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to HPS1.
31 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: HPS1 was added gene: HPS1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome