Research panel - Severe Paediatric Disorders
Gene: NOD2

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: NOD2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Blau syndrome, 186580 (3); Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:23 p.m.
Last Modified: 20 Feb 2020, 5:23 p.m.
Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Blau syndrome, OMIM:186580
{Inflammatory bowel disease 1, Crohn disease}, OMIM:266600
{Yao syndrome}, OMIM:617321

OMIM

605956

Clinvar variants

Variants in NOD2

Penetrance

None

Publications

30847515

Panels with this gene

History Filter Activity

10 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NOD2 were changed from Blau syndrome, 186580 to Blau syndrome, OMIM:186580; {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600; {Yao syndrome}, OMIM:617321

20 Feb 2020, Gel status: 3