Gastrointestinal epithelial barrier 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
3 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: Expert review and previous curation have indicated that variants in this gene are linked to gastrointestinal phenotypes including early onset inflammatory bowel disease linked to Hermansky-Pudlak syndrome 1. Therefore, will promote this gene to green.Created: 26 Jul 2018, 11:38 a.m.
Neil shah (GOSH)
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and G2P / DD. At least 7 variants reported.Created: 2 Sep 2016, 3:43 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Early Onset Inflammatory Bowel Disease
- Hermansky-Pudlak syndrome 1 203300
- OMIM
- 604982
- Clinvar variants
- Variants in HPS1
- Penetrance
- None
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- DDG2P
- Familial pulmonary fibrosis
- Intellectual disability
- 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
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
26 Jul 2018, Gel status: 3
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: hps1 has been classified as Green List (High Evidence).
25 Jul 2018, Gel status: 1
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
17 Apr 2018, Gel status: 1
Set penetrance
Olivia Niblock (Genomics England Curator)Phenotypes for gene HPS1 were set to Early Onset Inflammatory Bowel Disease, Hermansky-Pudlak syndrome 1 203300
17 Apr 2018, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)HPS1 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
17 Apr 2018, Gel status: 1
Created
Olivia Niblock (Genomics England Curator)HPS1 was created by Olivia Niblock