Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: NOD2

No list

NOD2 (nucleotide binding oligomerization domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000167207
EnsemblGeneIds (GRCh37): ENSG00000167207
OMIM: 605956, Gene2Phenotype
NOD2 is in 10 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Variants in NOD2 (particularly bi-allelic ones) are associated with increased risk of Crohn's disease. 7% of a cohort of 401 patients with Crohn's had NOD2 bi-allelic variants.
Sources: Expert list
Created: 25 Aug 2020, 8:23 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
{Inflammatory bowel disease 1, Crohn disease} 266600; {Yao syndrome} 617321

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

25 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: NOD2 was added gene: NOD2 was added to Infantile enterocolitis & monogenic inflammatory bowel disease. Sources: Expert list Mode of inheritance for gene: NOD2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NOD2 were set to 11385576; 17804789; 32463623 Phenotypes for gene: NOD2 were set to {Inflammatory bowel disease 1, Crohn disease} 266600; {Yao syndrome} 617321 Review for gene: NOD2 was set to GREEN gene: NOD2 was marked as current diagnostic