Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: HPS4

Green List (high evidence)

HPS4 (HPS4, biogenesis of lysosomal organelles complex 3 subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000100099
EnsemblGeneIds (GRCh37): ENSG00000100099
OMIM: 606682, Gene2Phenotype
HPS4 is in 10 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed from unknown.
Created: 5 Apr 2017, 9 a.m.

Neil shah (GOSH)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Nine variants reported
Created: 5 Sep 2016, 6:50 a.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 4 614073
OMIM
606682
Clinvar variants
Variants in HPS4
Penetrance
Complete
Panels with this gene

History Filter Activity

5 Apr 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for HPS4 was changed to BIALLELIC, autosomal or pseudoautosomal

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)

HPS4 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 Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene HPS4 was set to Unknown

2 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene HPS4 were set to Hermansky-Pudlak syndrome 4 614073

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

HPS4 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HPS4 was created by ellenmcdonagh