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Gastrointestinal epithelial barrier disorders

Gene: NOD2

Amber List (moderate evidence)
NOD2 (nucleotide binding oligomerization domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000167207
EnsemblGeneIds (GRCh37): ENSG00000167207
OMIM: 605956, Gene2Phenotype
NOD2 is in 9 panels

1 review

Olivia Niblock (Genomics England Curator)

Comment on list classification: The evidence suggests that variants in this gene provide a susceptibility to Crohns Disease but not direct causation. Therefore I shall leave this gene rating at amber.
Created: 26 Jul 2018, 1:06 p.m.
Created: 26 Jul 2018, 1:06 p.m.

Panel version: 1.45

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600
  • {Yao syndrome}, OMIM:617321
OMIM
605956
Clinvar variants
Variants in NOD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jan 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NOD2 were changed from {Inflammatory bowel disease 1, Crohn disease}; Crohn disease; Crohn Disease to {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600; {Yao syndrome}, OMIM:617321

26 Jul 2018, Gel status: 2

Set publications

Olivia Niblock (Genomics England Curator)

Publications for gene: NOD2 were set to 28826742; 29358789; 29795570

26 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: nod2 has been classified as Amber List (Moderate Evidence).

25 Jul 2018, Gel status: 2

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018

17 Apr 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set penetrance

Olivia Niblock (Genomics England Curator)

Illumina TruGenome Clinical Sequencing Services was added to NOD2. Panel: Gastrointestinal epithelial barrier disorders Model of inheritance for gene NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene NOD2 were set to {Inflammatory bowel disease 1, Crohn disease}, Crohn disease, Crohn Disease

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Olivia Niblock (Genomics England Curator)

Other was added to NOD2. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene NOD2 were set to {Inflammatory bowel disease 1, Crohn disease}, Crohn disease

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

NOD2 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Radboud University Medical Center, Nijmegen

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

NOD2 was created by Olivia Niblock