Infantile enterocolitis & monogenic inflammatory bowel disease

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 17 panels

2 reviews

Neil shah (GOSH)

Green List (high evidence)

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.

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