Genomics England
GMS Panels
Panels
Genes and Entities

NOD2

nucleotide binding oligomerization domain containing 2
OMIM: 605956
PanelMode of inheritanceDetails
3 panels
Green
in Autoinflammatory disorders
R-numbers: R413
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Inflammatory bowel disease 1, Crohn disease}, OMIM:266600, Blau syndrome, OMIM:186580, {Yao syndrome}, OMIM:617321
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Blau syndrome, OMIM:186580, {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600, {Yao syndrome}, OMIM:617321
Green
in Rare genetic inflammatory skin disorders
R-numbers: R332
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Blau syndrome, OMIM:186580