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STRs in panel
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COVID-19 research

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 8 panels

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
Unknown

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: Monoallelic inheritance for Blau syndrome 186580.
Created: 9 May 2018, 8:29 a.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): NOD2 (also called CARD15) .PanelApp HGNC gene symbol check: NOD2 . IUIS Disease: Blau syndrome . IUIS Inheritance: AD .T cells: Increased activated T cells, .B cells: N/A, .IUIS Other affected cells: Monocytes. IUIS Associated features: Uveitis, granulomatous synovitis, camptodactyly, rash and cranial neuropathies, 30% develop Crohn colitis. IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Non-Inflammasome Related Conditions
Created: 2 Jul 2018, 10:35 a.m.
Comment on mode of inheritance: added missing MOI from OMIM and Orphanet
Created: 13 Jun 2018, 11:52 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: CARD15, PanelApp HGNC gene symbol check: NOD2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Autoinflammatory disorders / Blau syndrome / Caspase recruitment domain-containing protein 15 deficiency (CARD15)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: NOD2, GRID_Gene_Symbol: NOD2, GRID_Transcript_ENS_Community submitted: ENST00000300589, GRID_Transcript_RefSeq: NM_022162.1, GRID_Transcript_ENS_used_on_Production: ENST00000300589
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Blau syndrome 186580
  • Uveitis, granulomatous synovitis, camptodactyly, rash and cranial neuropathies, 30% develop Crohn colitis
  • Autoinflammatory Disorders
  • Caspase recruitment domain-containing protein 15 deficiency (CARD15)
OMIM
605956
Clinvar variants
Variants in NOD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: NOD2 was added gene: NOD2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOD2 were set to 18955195; 15459013; 11528384; 4056967 Phenotypes for gene: NOD2 were set to Blau syndrome 186580; Uveitis, granulomatous synovitis, camptodactyly, rash and cranial neuropathies, 30% develop Crohn colitis; Autoinflammatory Disorders; Caspase recruitment domain-containing protein 15 deficiency (CARD15)