Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: NOD2EnsemblGeneIds (GRCh38): ENSG00000167207
EnsemblGeneIds (GRCh37): ENSG00000167207
OMIM: 605956, Gene2Phenotype
NOD2 is in 9 panels
1 review
Zornitza Stark (Australian Genomics)
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 listCreated: 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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600
- {Yao syndrome}, OMIM:617321
- OMIM
- 605956
- Clinvar variants
- Variants in NOD2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mosaic skin disorders - deep sequencing
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Periodic fever syndromes
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Generalised pustular psoriasis
- Autoinflammatory disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NOD2 were changed from {Inflammatory bowel disease 1, Crohn disease} 266600; {Yao syndrome} 617321 to {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600; {Yao syndrome}, OMIM:617321
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