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.

7 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • 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

62 Entities

62 reviewed, 51 green

List Entity Reviews Mode of inheritance Details
62 Entitiess
Green Green List (high evidence)
ADA
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • 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)
AICDA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Immunodeficiency with hyper-IgM, type 2 605258
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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Immunodeficiency, X-linked, with hyper-IgM 308230
Tags
Green Green List (high evidence)
COL7A1
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dystrophic epidermolysis bullosa
Tags
Green Green List (high evidence)
CTLA4
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • CTLA4 deficiency
Tags
Green Green List (high evidence)
CYBA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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 613217
Tags
Green Green List (high evidence)
FERMT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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 Review Green
  • Expert list
Phenotypes
  • Congenital neutropenia
Tags
Green Green List (high evidence)
GUCY2C
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ectodermal X-linked dysplasia, hypohidrotic, with immune deficiency 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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
  • SCID
  • LIG4 syndrome 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 134610
  • Familial Mediterranean fever, AR 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 260920
  • Mevalonic aciduria 610377
Tags
Green Green List (high evidence)
NCF1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • 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, 617099
  • AIPDS
Tags
Green Green List (high evidence)
PIK3CD
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • PI3K activation syndrome
  • Immunodeficiency 14 615513
Tags
Green Green List (high evidence)
PTEN
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • PTEN hamartoma tumor syndrome
  • Bannayan-Riley-Ruvalcaba syndrome 153480
Tags
Green Green List (high evidence)
RAG1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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 Review Green
  • Expert list
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
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 type 1b 232220
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 Review Green
  • Expert list
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 Review Green
  • Expert list
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 Review Green
  • Expert list
Phenotypes
  • Loeys-Dietz-Syndrome
Tags
Green Green List (high evidence)
TGFBR2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
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
Green Green List (high evidence)
TTC7A
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • 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
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
  • 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)
ADAM17
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ADAM-17 deficiency
  • Inflammatory skin and bowel disease, neonatal, 1 614328
Tags
Amber Amber List (moderate evidence)
DKC1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Expert list
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 Review Amber
  • Expert list
  • 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 Review Amber
  • Expert list
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 Review Amber
  • Expert list
Phenotypes
  • Niemann_Pick type C disease
  • Niemann-Pick disease, type D
Tags
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 Review Amber
  • Expert list
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 Review Amber
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Phospholipase C_2 defects
  • Autoinflammation, antibody deficiency, and immune dysregulation syndrome 614878
Tags
Amber Amber List (moderate evidence)
ZAP70
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Expert list
  • 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 Review Red
  • Expert list
Phenotypes
  • MASP2-deficiency
Tags
Red Red List (low evidence)
NCF4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • 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 Review Red
  • Expert list
Tags

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