NOD2

nucleotide binding oligomerization domain containing 2
OMIM: 605956, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green NOD2 in Periodic fever syndromes Level 3: Multi-system inflammatory/autoimmune disorders Level 2: Rheumatological disorders Version 1.33	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Blau syndrome, OMIM:186580
No list NOD2 in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.44	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Phenotypes {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600 {Yao syndrome}, OMIM:617321
Amber NOD2 in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.75	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services Other Radboud University Medical Center, Nijmegen Phenotypes {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600 {Yao syndrome}, OMIM:617321
Red NOD2 in Generalised pustular psoriasis Level 3: Autoimmune skin disorders Level 2: Dermatological disorders Version 1.12	review	Unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes {Psoriatic arthritis, susceptibility to}, 607507
Green NOD2 in COVID-19 research Level 2: Viral research Version 1.142	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Phenotypes Blau syndrome, OMIM:186580 {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600 {Yao syndrome}, OMIM:617321
Green NOD2 in Rare genetic inflammatory skin disorders Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Blau syndrome, OMIM:186580
Green NOD2 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Blau syndrome, OMIM:186580 {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600 {Yao syndrome}, OMIM:617321
No list NOD2 in Mosaic skin disorders - deep sequencing Version 2.47 Latest signed off version: v2.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed London North GLH NHS GMS Phenotypes Blau syndrome, OMIM:186580 Tags curated_removed
Green NOD2 in Severe Paediatric Disorders Version 1.184	review	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
Green NOD2 in Autoinflammatory disorders Level 3: Primary immunodeficiency disorders Level 2: Haematological disorders Version 2.1 Latest signed off version: v2.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600 Blau syndrome, OMIM:186580 {Yao syndrome}, OMIM:617321