1. Panels
  2. Chronic granulomatous disease
  3. NOD2
STRs in panel
Prev Next
Regions in panel
Prev Next

Chronic granulomatous disease

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Granulomatous disease can be part of the presenting phenotype of NOD2-associated disease.
Created: 20 Aug 2020, 11:24 p.m. | Last Modified: 20 Aug 2020, 11:24 p.m.
Panel Version: 0.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Blau syndrome syndrome, MIM# 186580; granulomatous disease

Publications

Created: 20 Aug 2020, 11:24 p.m.
Last Modified: 20 Aug 2020, 11:24 p.m.
Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Blau syndrome MIM#186580
  • granulomatous disease
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 Blau syndrome MIM#186580 to Blau syndrome MIM#186580; granulomatous disease

20 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NOD2 were set to

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

1 Jun 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NOD2 was added gene: NOD2 was added to Chronic granulomatous disease. Sources: Expert list Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NOD2 were set to Blau syndrome MIM#186580