NOD2

nucleotide binding oligomerization domain containing 2
OMIM: 605956
PanelMode of inheritanceDetails
2 panels
R-numbers: R15
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Blau syndrome 186580, Caspase recruitment domain-containing protein 15 deficiency (CARD15), Uveitis, granulomatous synovitis, camptodactyly, rash and cranial neuropathies, 30% develop Crohn colitis, Autoinflammatory Disorders
R-numbers: R332
Signed-off version 1.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Blau syndrome, BLAU SYNDROME, BLAUS