Infantile enterocolitis & monogenic inflammatory bowel disease (Version 1.44)

Description

Infantile enterocolitis and monogenic inflammatory bowel disease inclusion criteria (37498)
- Chronic inflammatory bowel disease and inflammatory bowel disease like intestinal inflammation
- Age of onset intestinal inflammation less than complete 2 years of age.
- Histology confirmed intestinal inflammation with first endoscopy (less than 2.5 years of age).

Infantile enterocolitis and monogenic inflammatory bowel disease exclusion criteria (37498)
- Acute infectious gastroenteritis/enterocolitis due to common pathogens (Rotavirus, Norovirus, Salmonella etc.)

Prior genetic testing guidance (37498)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Infantile enterocolitis and monogenic inflammatory bowel disease prior genetic testing genes (37498)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:

- In case of enterocolitis less than 3 month of age IL10, IL10RA and IL10RB signalling defects should be excluded.
- In case of enterocolitis with infantile diabetes and autoimmunity IPEX (FOXP3) should be excluded.

Closing statement (37498)
These requirements will be kept under continual review during the main programme and may be subject to change.

Panel Activity

11 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Richard Scott (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Neil shah (GOSH)

Group: Other NHS organisation
Workplace: NHS clinical service
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Helen Brittain (Genomics England Curator)

Group: Other
Workplace: Other
Owen Siggs (Flinders University)

Group: Other
Workplace: Research lab
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

69 Entities

69 reviewed, 51 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 69 Entitiess
Green Green List (high evidence)	ADA	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Severe combined immunodeficiency due to ADA deficiency (SCID) 102700 Tags gene-therapy-trial
Green Green List (high evidence)	ADAM17	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes ADAM-17 deficiency ?Inflammatory skin and bowel disease, neonatal, 1, OMIM:614328 Tags
Green Green List (high evidence)	AICDA	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Immunodeficiency with hyper-IgM, type 2, OMIM:605258 Tags
Green Green List (high evidence)	BACH2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 60, OMIM:618394 inflammatory bowel disease recurrent sinopulmonary infections Tags
Green Green List (high evidence)	BTK	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Agammaglobulinemia and isolated hormone deficiency 307200 Agammaglobulinemia, X-linked 1 300755 Tags
Green Green List (high evidence)	CD3G	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Immunodeficiency 17, CD3 gamma deficient 615607 Tags
Green Green List (high evidence)	CD40LG	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Immunodeficiency, X-linked, with hyper-IgM 308230 Tags
Green Green List (high evidence)	CTLA4	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes CTLA4 deficiency Tags
Green Green List (high evidence)	CYBA	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Chronic granulomatous disease, autosomal, due to deficiency of CYBA 233690 Tags
Green Green List (high evidence)	CYBB	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Chronic granulomatous disease, X-linked 306400 Tags gene-therapy-trial
Green Green List (high evidence)	DCLRE1C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Omenn syndrome 603554 Severe combined immunodeficiency, Athabascan type 602450 Tags
Green Green List (high evidence)	DOCK8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hyper-IgE recurrent infection syndrome, autosomal recessive 243700 Tags
Green Green List (high evidence)	EPCAM	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217 Tags
Green Green List (high evidence)	FERMT1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Kindler syndrome Tags
Green Green List (high evidence)	FOXP3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) 304790 Tags
Green Green List (high evidence)	G6PC3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Dursun syndrome OMIM:612541 Neutropenia, severe congenital 4, autosomal recessive OMIM:612541 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0012930 Tags
Green Green List (high evidence)	GUCY2C	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Familial Diarrhea 6 614616 Tags
Green Green List (high evidence)	HPS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hermansky-Pudlak syndrome 1 203300 Tags
Green Green List (high evidence)	HPS4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hermansky-Pudlak syndrome 4 614073 Tags
Green Green List (high evidence)	HPS6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hermansky-Pudlak syndrome 6 614075 Tags
Green Green List (high evidence)	ICOS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Immunodeficiency, common variable, 1 607594 Tags
Green Green List (high evidence)	IKBKG	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ectodermal dysplasia and immunodeficiency 1, OMIM:300291 Tags
Green Green List (high evidence)	IL10RA	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes IL-10 signalling defects / deficiency Inflammatory bowel disease 28, early onset, autosomal recessive 613148 Tags
Green Green List (high evidence)	IL10RB	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes IL-10 signalling defects / deficiency Inflammatory bowel disease 25, early onset, autosomal recessive 612567 Tags
Green Green List (high evidence)	IL2RA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Immunodeficiency 41 with lymphoproliferation and autoimmunity (IPEX-like) 606367 Tags
Green Green List (high evidence)	IL2RG	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Severe combined immunodeficiency, X-linked 300400 Tags gene-therapy-trial
Green Green List (high evidence)	ITGB2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Leukocyte adhesion deficiency 116920 Tags
Green Green List (high evidence)	LIG4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes LIG4 syndrome, OMIM:606593 Tags
Green Green List (high evidence)	LRBA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Immunodeficiency, common variable, 8, with autoimmunity (CVID 8) 614700 Tags
Green Green List (high evidence)	MEFV	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Familial Mediterranean fever, AD, OMIM:134610 Familial Mediterranean fever, AR, OMIM:249100 Tags
Green Green List (high evidence)	MVK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hyper-IgD syndrome, OMIM:260920 Mevalonic aciduria, OMIM:610377 Tags
Green Green List (high evidence)	NCF1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Chronic granulomatous disease due to deficiency of NCF-1 233700 Tags
Green Green List (high evidence)	NCF2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Chronic granulomatous disease due to deficiency of NCF-2 233710 Tags
Green Green List (high evidence)	OTULIN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099 Tags
Green Green List (high evidence)	PIK3CD	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Immunodeficiency 14A, autosomal dominant, OMIM:615513 Tags
Green Green List (high evidence)	RAG1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Severe combined immunodeficiency, B cell-negative Omenn syndrome Combined cellular and humoral immune defects with granulomas Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Tags
Green Green List (high evidence)	RAG2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes SCID/Hyper-IgM Severe combined immunodeficiency, B cell-negative 601457 Omenn syndrome 603554 Tags
Green Green List (high evidence)	RTEL1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hoyeraal Hreidarsson Syndrome Dyskeratosis congenita, autosomal dominant 4 Dyskeratosis congenita, autosomal recessive 5 Tags
Green Green List (high evidence)	SAMD9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes MIRAGE syndrome 617053 Tags missense
Green Green List (high evidence)	SH2D1A	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Lymphoproliferative syndrome, X-linked, 1 308240 Tags
Green Green List (high evidence)	SKIV2L	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Trichohepatoenteric syndrome 2 614602 Tags new-gene-name
Green Green List (high evidence)	SLC37A4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycogen storage disease Ib, OMIM:232220 Glycogen storage disease Ic, OMIM:232240 Tags
Green Green List (high evidence)	STAT1	4 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes IPEX-like Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892 Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796 Immunodeficiency 31C, autosomal dominant 614162 Tags
Green Green List (high evidence)	STAT3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Autoimmune disease, multisystem, infantile-onset, 1 Tags
Green Green List (high evidence)	STXBP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hemophagocytic lymphohistiocytosis, familial, 5 613101 Tags
Green Green List (high evidence)	TGFBR1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Loeys-Dietz-Syndrome Tags
Green Green List (high evidence)	TGFBR2	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Loeys-Dietz-Syndrome Loeys-Dietz syndrome 2 Tags
Green Green List (high evidence)	TTC37	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Trichohepatoenteric syndrome 1 222470 Tags new-gene-name
Green Green List (high evidence)	TTC7A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes TTC7A deficiency Epithelial Barrier Dysfunction Gastrointestinal defects and immunodeficiency syndrome 243150 Tags
Green Green List (high evidence)	WAS	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Wiskott-Aldrich syndrome 301000 Tags gene-therapy-trial
Green Green List (high evidence)	XIAP	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Lymphoproliferative syndrome, X-linked, 2 300635 Tags
Amber Amber List (moderate evidence)	ANO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Impaired intestinal peristalsis Haemorrhagic diarrhoea Dysmorphic features Tags
Amber Amber List (moderate evidence)	COL7A1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Dystrophic epidermolysis bullosa Tags
Amber Amber List (moderate evidence)	DKC1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Amber Phenotypes Hoyeraal Hreidarsson Syndrome Dyskeratosis congenita, X-linked Tags
Amber Amber List (moderate evidence)	IL10	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Amber UKGTN Phenotypes IL-10 signalling defects / deficiency IL10-Related Inflammatory Bowel Disease Tags
Amber Amber List (moderate evidence)	IL21	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes IL21 deficiency (Combined variable immunodeficiency-like) severe diarrhea and inflammatory bowel disease Early-onset inflammatory bowel disease Tags
Amber Amber List (moderate evidence)	NPC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Niemann_Pick type C disease Niemann-Pick disease, type D Tags
Amber Amber List (moderate evidence)	PI4KA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 Tags watchlist
Amber Amber List (moderate evidence)	PIK3R1	3 reviews 1 green 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Agammaglobulinemia 7, autosomal recessive 615214 Tags
Amber Amber List (moderate evidence)	PLCG2	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Radboud University Medical Center, Nijmegen UKGTN Phenotypes Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878 Tags
Amber Amber List (moderate evidence)	PTEN	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Amber Radboud University Medical Center, Nijmegen UKGTN Phenotypes PTEN hamartoma tumor syndrome Bannayan-Riley-Ruvalcaba syndrome 153480 Tags
Amber Amber List (moderate evidence)	ZAP70	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes SCID Autoimmune disease, multisystem, infantile-onset, 2 617006 Tags watchlist
Red Red List (low evidence)	MASP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes MASP2-deficiency Tags
Red Red List (low evidence)	NCF4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 613960 Tags
Red Red List (low evidence)	RIPK2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Tags
No list No list	IFIH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Inflammatory Bowel Disease Tags
No list No list	NOD2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Phenotypes {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600 {Yao syndrome}, OMIM:617321 Tags
No list No list	RIPK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Immunodeficiency 57, OMIM:618108 Tags
No list No list	TRIM22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Inflammatory bowel disease Tags

Major version comments

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

Infantile enterocolitis & monogenic inflammatory bowel disease (Version 1.44)

11 reviewers

69 Entities

69 reviewed, 51 green

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