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Inborn errors of metabolism

Gene: HPS1

Green List (high evidence)

HPS1 (HPS1, biogenesis of lysosomal organelles complex 3 subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000107521
EnsemblGeneIds (GRCh37): ENSG00000107521
OMIM: 604982, Gene2Phenotype
HPS1 is in 15 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Infantile enterocolitis & monogenic inflammatory bowel disease;Hermansky-Pudlak Syndrome (Other lysosomal disorders);Inherited bleeding disorders
Created: 15 Aug 2019, 11:55 a.m. | Last Modified: 15 Aug 2019, 11:55 a.m.
Panel Version: 1.153
Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least 5 unrelated cases.
Created: 15 Aug 2019, 11:52 a.m. | Last Modified: 15 Aug 2019, 11:52 a.m.
Panel Version: 1.151

History Filter Activity

15 Aug 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: HPS1 were changed from Infantile enterocolitis & monogenic inflammatory bowel disease; Hermansky-Pudlak Syndrome (Other lysosomal disorders); Inherited bleeding disorders to Hermansky-Pudlak syndrome 1 203300

15 Aug 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: HPS1 were set to 27604308

15 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: hps1 has been classified as Green List (High Evidence).

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HPS1. Source London North GLH was added to HPS1.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: HPS1 was added gene: HPS1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS1 were set to 27604308 Phenotypes for gene: HPS1 were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Hermansky-Pudlak Syndrome (Other lysosomal disorders); Inherited bleeding disorders