Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: LIG4
Associated with phenotype in OMIM and G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. At least five reports of p.Arg814* and four other variants identified.
Created: 6 Sep 2016, 8:26 a.m.
Comment on phenotypes: Also associated with {Multiple myeloma, resistance to} 254500Created: 6 Sep 2016, 8:19 a.m.
Publications
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Publications for LIG4 were set to 27537055 - pathogenic variant in this gene reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease.
Phenotypes for LIG4 were set to SCID; LIG4 syndrome 606593
LIG4 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 LIG4 were set to SCID; LIG4 syndrome 606593
LIG4 was created by ellenmcdonagh
LIG4 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list