Gastrointestinal epithelial barrier disorders
Gene: HPS4EnsemblGeneIds (GRCh38): ENSG00000100099
EnsemblGeneIds (GRCh37): ENSG00000100099
OMIM: 606682, Gene2Phenotype
HPS4 is in 10 panels
4 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: Nine variants reported for this gene linked to gastrointestinal phenotypes and expert review green. Phenotypes include Granulomatous colitis as a part of Hermansky-Pudlak syndrome 4. Promoting gene to green.Created: 26 Jul 2018, 10:26 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Changed from unknown.Created: 5 Apr 2017, 9 a.m.
Neil shah (GOSH)
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 reportedCreated: 5 Sep 2016, 6:50 a.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 4 614073
- OMIM
- 606682
- Clinvar variants
- Variants in HPS4
- Penetrance
- None
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- Pulmonary fibrosis familial
- Familial pulmonary fibrosis
- Albinism or congenital nystagmus
- Inherited bleeding disorders
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Ocular and oculo-cutaneous albinism
History Filter Activity
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: hps4 has been classified as Green List (High Evidence).
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
Set mode of inheritance, Set penetrance
Olivia Niblock (Genomics England Curator)Model of inheritance for gene HPS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene HPS4 were set to Early Onset Inflammatory Bowel Disease, Hermansky-Pudlak syndrome 4 614073
Added New Source
Olivia Niblock (Genomics England Curator)HPS4 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
Created
Olivia Niblock (Genomics England Curator)HPS4 was created by Olivia Niblock