Autoinflammatory disorders
Gene: NOD2EnsemblGeneIds (GRCh38): ENSG00000167207
EnsemblGeneIds (GRCh37): ENSG00000167207
OMIM: 605956, Gene2Phenotype
NOD2 is in 9 panels
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 11:44 a.m. | Last Modified: 16 Feb 2022, 11:44 a.m.
Panel Version: 0.36
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600
- Blau syndrome, OMIM:186580
- {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
Added New Source
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to NOD2.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: NOD2 was added gene: NOD2 was added to Autoinflammatory disorders. Sources: Expert Review Green Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOD2 were set to 11385576; 25136265; 19479837; 25416713; 21914217; 26070941 Phenotypes for gene: NOD2 were set to {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600; Blau syndrome, OMIM:186580; {Yao syndrome}, OMIM:617321