Infantile enterocolitis & monogenic inflammatory bowel diseaseGene: HPS4
Comment on mode of inheritance: Changed from unknown.
Created: 5 Apr 2017, 9 a.m.
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.
Mode of inheritance for HPS4 was changed to BIALLELIC, autosomal or pseudoautosomal
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
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
Model of inheritance for gene HPS4 was set to Unknown
Phenotypes for gene HPS4 were set to Hermansky-Pudlak syndrome 4 614073
HPS4 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list
HPS4 was created by ellenmcdonagh