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Vasculitis

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 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Blau syndrome is characterised by the triad of granulomatous arthritis, uveitis, and dermatitis; multiple families reported. Link with vasculitis not clear for this auto-inflammatory disorder. One report of retinal vasculitis.
Created: 20 Aug 2020, 11:15 p.m. | Last Modified: 20 Aug 2020, 11:15 p.m.
Panel Version: 0.19

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Blau syndrome, MIM# 186580

Publications

Created: 20 Aug 2020, 11:15 p.m.
Last Modified: 20 Aug 2020, 11:15 p.m.
Panel version: 0.19

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Blau syndrome, MIM# 186580
OMIM
605956
Clinvar variants
Variants in NOD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nod2 has been classified as Red List (Low Evidence).

20 Aug 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NOD2 were changed from to Blau syndrome, MIM# 186580

20 Aug 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NOD2 were set to

20 Aug 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NOD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nod2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NOD2 was added gene: NOD2 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NOD2 was set to Unknown