Gastrointestinal epithelial barrier disorders
Gene: NOD2Comment on list classification: The evidence suggests that variants in this gene provide a susceptibility to Crohns Disease but not direct causation. Therefore I shall leave this gene rating at amber.Created: 26 Jul 2018, 1:06 p.m.
Phenotypes for gene: NOD2 were changed from {Inflammatory bowel disease 1, Crohn disease}; Crohn disease; Crohn Disease to {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600; {Yao syndrome}, OMIM:617321
Publications for gene: NOD2 were set to 28826742; 29358789; 29795570
Gene: nod2 has been classified as Amber List (Moderate Evidence).
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
Illumina TruGenome Clinical Sequencing Services was added to NOD2. Panel: Gastrointestinal epithelial barrier disorders Model of inheritance for gene NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene NOD2 were set to {Inflammatory bowel disease 1, Crohn disease}, Crohn disease, Crohn Disease
Other was added to NOD2. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene NOD2 were set to {Inflammatory bowel disease 1, Crohn disease}, Crohn disease
NOD2 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Radboud University Medical Center, Nijmegen
NOD2 was created by Olivia Niblock