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  3. NOD2
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Generalised pustular psoriasis

Gene: NOD2

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

3 reviews

catherine smith (Guys and St Thomas' NHS Foundation Trust)

Red List (low evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. No variants reported
Created: 4 Nov 2016, 3:21 p.m.
Comment on mode of inheritance: Monoallelic for Blau syndrome 186580, unknown for the other phenotypes
Created: 4 Nov 2016, 3:17 p.m.
Comment on phenotypes: Also associated with {Inflammatory bowel disease 1}, 266600; Blau syndrome, 186580; Sarcoidosis, early-onset, 609464
Created: 4 Nov 2016, 3:16 p.m.
Created: 4 Nov 2016, 3:16 p.m.

Panel version: 0.40

Francesca Capon (King's College London)

I don't know

Created: 15 Dec 2015, 9:31 p.m.

Panel version: 0.18

History Filter Activity

24 Nov 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 24/11/2016

4 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Nov 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for NOD2 was changed to Unknown

4 Nov 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NOD2 were set to {Psoriatic arthritis, susceptibility to}, 607507

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NOD2 was added to Generalised pustular psoriasispanel. Sources: Radboud University Medical Center, Nijmegen