Infantile enterocolitis & monogenic inflammatory bowel diseaseGene: HPS1
Associated with phenotype in OMIM and G2P / DD. At least 7 variants reported.
Created: 2 Sep 2016, 3:43 p.m.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
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
Phenotypes for gene HPS1 were set to Hermansky-Pudlak syndrome 1 203300
HPS1 was created by ellenmcdonagh
HPS1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list