Periodic fever syndromes
Gene: NOD2EnsemblGeneIds (GRCh38): ENSG00000167207
EnsemblGeneIds (GRCh37): ENSG00000167207
OMIM: 605956, Gene2Phenotype
NOD2 is in 9 panels
1 review
Alice Gardham (Genomics England)
Recognised by the Royal Free Periodic Fever Service as an inherited fever syndrome. Also listed as a differential on genereviewCreated: 2 Feb 2017, 10:56 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Blau syndrome 186580
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- Blau syndrome, OMIM:186580
- OMIM
- 605956
- Clinvar variants
- Variants in NOD2
- Penetrance
- Complete
- 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 Blau syndrome, 186580 to Blau syndrome, OMIM:186580
panel promoted to version 1
Rebecca Foulger (Genomics England curator)22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for NOD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for NOD2 were set to 11528384; 20301405
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Rebecca Foulger (Genomics England curator)NOD2 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)NOD2 was added to Periodic fever syndromespanel. Sources: Other