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Mendeliome

Gene: NOD2

Green List (high evidence)

NOD2 (nucleotide binding oligomerization domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000167207
EnsemblGeneIds (GRCh37): ENSG00000167207
OMIM: 605956, Gene2Phenotype
NOD2 is in 5 panels

2 reviews

Lavvina Thiyagarajan (Sydney Children's Hospital Network)

I don't know

Bi-allelic variants in NOD2 (homozygous or compound het) are known to be associated with an increased risk of Crohn's but have incomplete penetrance. A study by Horowitz et al, 2017 (https://www.biorxiv.org/content/10.1101/098574v2.full) "observed incomplete penetrance, as evidenced by homozygous or compound heterozygous NOD2 variant carriers that do not have a clinical presentation of IBD". It would be difficult to use variants within this gene for reproductive purposes / prenatal testing at this point in time. Testing for NOD2 would perhaps be more useful in predicting disease severity and for treatment planning purposes as there appears to be an association with a marked stricturing phenotype in individuals with these variants.
Created: 10 Mar 2021, 10:25 a.m. | Last Modified: 10 Mar 2021, 10:25 a.m.
Panel Version: 0.47

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Inflammatory bowel disease, Crohn's disease

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Blau syndrome is characterised by the triad of granulomatous arthritis, uveitis, and dermatitis; multiple families reported.
Created: 20 Aug 2020, 11:09 p.m. | Last Modified: 20 Aug 2020, 11:09 p.m.
Panel Version: 0.3856

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Blau syndrome, MIM# 186580

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Blau syndrome, MIM# 186580
OMIM
605956
Clinvar variants
Variants in NOD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nod2 has been classified as Green List (High Evidence).

20 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NOD2 were changed from to Blau syndrome, MIM# 186580

20 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NOD2 were set to

20 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NOD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NOD2 was added gene: NOD2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NOD2 was set to Unknown