Gastrointestinal epithelial barrier disorders
Gene: LIG4Comment on list classification: From internal clinical review and literature search, it appears that there is one patient with gastrointestinal features and a LIG4 variant (patient presented with other immunologically related phenotypes).
Internal clinical team review suggests that gastrointestinal phenotypes are not clearly linked with variants in this gene and that patients primarily present with other features beforehand. Taking this into account with the expert review, I will make this amber.Created: 25 Jul 2018, 3:06 p.m.
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
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
Gene: lig4 has been classified as Amber List (Moderate Evidence).
LIG4 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
LIG4 was created by Olivia Niblock