Rare genetic inflammatory skin disorders
Gene: NOD2EnsemblGeneIds (GRCh38): ENSG00000167207
EnsemblGeneIds (GRCh37): ENSG00000167207
OMIM: 605956, Gene2Phenotype
NOD2 is in 9 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
BLAU SYNDROME; BLAUS
Publications
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: NOD2; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:02 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Blau syndrome, OMIM:186580
- OMIM
- 605956
- Clinvar variants
- Variants in NOD2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mosaic skin disorders - deep sequencing
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Periodic fever syndromes
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Generalised pustular psoriasis
- Autoinflammatory disorders
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: NOD2 were changed from Blau syndrome; BLAU SYNDROME; BLAUS to Blau syndrome, OMIM:186580
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes BLAUS; BLAU SYNDROME for gene: NOD2 Publications for gene NOD2 were changed from to 11528384
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to NOD2.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: NOD2 was added gene: NOD2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NOD2 were set to Blau syndrome