Ocular and oculo-cutaneous albinism
Gene: HPS1EnsemblGeneIds (GRCh38): ENSG00000107521
EnsemblGeneIds (GRCh37): ENSG00000107521
OMIM: 604982, Gene2Phenotype
HPS1 is in 17 panels
3 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: After clinical discussion, we have decided that the evidence for this gene's involvement is high.Created: 7 Aug 2017, 7:27 a.m.
Luke Michaels (University of Southampton; University Hospital Southampton NHS Foundation Trus)
Ocular and oculo-cutaneous albinism are characteristic features of HPS1. HPS1 is commonly found in people of Puerto Rican or Swiss descent.Created: 13 Jul 2017, 10:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 1
Publications
Chris Campbell (GEL)
Reported several times in patients with Hermansky-Pudlak syndrome 1(>3 families), of which a primary presenting feature is oculocutaneous albinism.Created: 27 Apr 2017, 1:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 1
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Literature
- Phenotypes
-
- Hermansky-Pudlak syndrome 1
- OMIM
- 604982
- Clinvar variants
- Variants in HPS1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Pulmonary fibrosis familial
- Bleeding and platelet disorders
- Familial pulmonary fibrosis
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Likely inborn error of metabolism
- Pigmentary skin disorders
- Intellectual disability
- Albinism or congenital nystagmus
- Childhood onset dystonia, chorea or related movement disorder
- Inherited bleeding disorders
- DDG2P
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Fetal anomalies
- Ocular and oculo-cutaneous albinism
History Filter Activity
Set publications
Olivia Niblock (Genomics England Curator)Publications for HPS1 were set to 9705234; 10971344; 9497254; 7573033
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Chris Campbell (GEL)HPS1 was created by chriscampbell
Added New Source
Chris Campbell (GEL)HPS1 was added to Ocular and oculo-cutaneous albinismpanel. Sources: Expert list,Literature