Infantile enterocolitis & monogenic inflammatory bowel disease
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
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
-
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Phenotypes
-
- Hermansky-Pudlak syndrome 1 203300
- OMIM
- 604982
- Clinvar variants
- Variants in HPS1
- Penetrance
- Complete
- 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
14 Oct 2016, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
2 Sep 2016, Gel status: 4
Upload gene information
Sarah Leigh (Genomics England Curator)HPS1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
2 Sep 2016, Gel status: 0
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene HPS1 were set to Hermansky-Pudlak syndrome 1 203300
10 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)HPS1 was created by ellenmcdonagh
10 May 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)HPS1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list