Description
NB. Clinical test guidance:
General biopsy refers to biopsy of abnormal intestinal features 
Inflammatory markers refers to C reactive protein 
General Imaging Diagnostics refers to Endoscopy

Gastrointestinal epithelial barrier disorders inclusion criteria (40230)
•	Proven histological evidence of epithelial disorder on gut biopsy: Epithelial dysmorphology characterised by e.g. epithelial detachment abnormal epithelial cell polarisation, epithelial cell crowding/tufting and increased apoptotic activity of the epithelial layer.

Gastrointestinal epithelial barrier disorders exclusion criteria (40230)
•	Evidence of primary immune deficiency. 
•	Histopathology in keeping with conventional GI disorders such as IBD without features described above.

Prior genetic testing guidance (40230)
- 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.

Gastrointestinal epithelial barrier disorders prior genetic testing genes (40230)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 •	EPCAM, MYO5B, ADAM17, IKBKG

Closing statement (40230)
These requirements will be kept under continual review during the main programme and may be subject to change.

8 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Olivia Niblock (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

82 Entities

64 reviewed, 36 green

List Entity Reviews Mode of inheritance Details
82 Entitiess
Green Green List (high evidence)
IL10RA
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory bowel disease 28, early onset, autosomal recessive, 613148
  • Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • IL-10 signalling defects / deficiency
  • Inflammatory bowel disease 28, early onset, autosomal recessive 613148
  • Ulcerative Colitis
Tags
Green Green List (high evidence)
CD40LG
4 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Immunodeficiency, X-linked, with hyper-IgM 308230
Tags
Green Green List (high evidence)
CTLA4
4 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
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Chronic granulomatous disease, autosomal, due to deficiency of CYBA 233690
Tags
Green Green List (high evidence)
CYBB
4 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
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Chronic granulomatous disease, X-linked 306400
Tags
Green Green List (high evidence)
DCLRE1C
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Omenn syndrome 603554
  • Severe combined immunodeficiency, Athabascan type 602450
Tags
Green Green List (high evidence)
DOCK8
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
Tags
Green Green List (high evidence)
EPCAM
4 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
Phenotypes
  • Diarrhea 5, with tufting enteropathy, congenital 613217
  • Diarrhea 5, with tufting enteropathy, congenital
  • Colorectal cancer, hereditary nonpolyposis, type 8, 613244
  • Diarrhea 5, with tufting enteropathy, congenital, 613217
Tags
Green Green List (high evidence)
FOXP3
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 Review Green
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) 304790
Tags
Green Green List (high evidence)
GUCY2C
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diarrhea 6, 614616
Tags
Green Green List (high evidence)
HPS1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Hermansky-Pudlak syndrome 1 203300
Tags
Green Green List (high evidence)
HPS4
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Hermansky-Pudlak syndrome 4 614073
Tags
Green Green List (high evidence)
HPS6
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Hermansky-Pudlak syndrome 6 614075
Tags
Green Green List (high evidence)
ICOS
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Immunodeficiency, common variable, 1 607594
Tags
Green Green List (high evidence)
IL10
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • UKGTN
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
  • Crohn disease
Tags
Green Green List (high evidence)
IL10RB
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inflammatory bowel disease 25, early onset, autosomal recessive, 612567
  • Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Inflammatory bowel disease 25, early onset, autosomal recessive
  • Ulcerative Colitis
Tags
Green Green List (high evidence)
IL2RA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Immunodeficiency 41 with lymphoproliferation and autoimmunity (IPEX-like) 606367
Tags
Green Green List (high evidence)
IL2RG
4 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
Tags
Green Green List (high evidence)
MEFV
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Familial Mediterranean fever, AD 134610
  • Familial Mediterranean fever, AR 249100
Tags
Green Green List (high evidence)
MVK
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Hyper-IgD syndrome 260920
  • Mevalonic aciduria 610377
Tags
Green Green List (high evidence)
MYO5B
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Microvillus inclusion disease 251850
  • Microvillus inclusion disease
Tags
Green Green List (high evidence)
NCF1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
Tags
Green Green List (high evidence)
OTULIN
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Tags
Green Green List (high evidence)
RAG1
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Tags
Green Green List (high evidence)
RAG2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
Tags
Green Green List (high evidence)
RTEL1
4 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Tags
Green Green List (high evidence)
SAMD9
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Tags
Green Green List (high evidence)
SH2D1A
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
  • UKGTN
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Lymphoproliferative syndrome, X-linked, 1 308240
Tags
Green Green List (high evidence)
SKIV2L
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
  • Trichohepatoenteric syndrome 2, 614602
  • Trichohepatoenteric Syndrome
  • Inflammatory Bowel Disease (Very Early Onset)
Tags
Green Green List (high evidence)
SLC37A4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Glycogen storage disease type 1b 232220
Tags
Green Green List (high evidence)
STAT3
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Crohn disease
Tags
Green Green List (high evidence)
STXBP2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Hemophagocytic lymphohistiocytosis, familial, 5 613101
Tags
Green Green List (high evidence)
TTC37
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Trichohepatoenteric syndrome 1, 222470
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Trichohepatoenteric syndrome 1 222470
Tags
Green Green List (high evidence)
TTC7A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome, 243150
Tags
Green Green List (high evidence)
WAS
4 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
  • UKGTN
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • 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 Review Green
  • UKGTN
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Lymphoproliferative syndrome, X-linked, 2 300635
Tags
Amber Amber List (moderate evidence)
ADA
4 reviews
2 green
Not set
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome, 243150
  • Inflammatory Bowel Disease (Very Early Onset)
Tags
Amber Amber List (moderate evidence)
ADAM17
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Amber
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Inflammatory skin and bowel disease, neonatal, 1 614328
  • Gastrointestinal epithelial barrier disorders
  • Immunodeficiency 33, 300636
  • Immunodeficiency, isolated, 300584
  • ?Inflammatory skin and bowel disease, neonatal, 1, 614328
Tags
Amber Amber List (moderate evidence)
COL7A1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Dystrophic epidermolysis bullosa
Tags
Amber Amber List (moderate evidence)
FERMT1
3 reviews
1 green
Not set
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Kindler syndrome
Tags
Amber Amber List (moderate evidence)
IKBKG
4 reviews
1 green
Unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Amber
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Immunodeficiency 33, 300636
  • Immunodeficiency, isolated, 300584
Tags
Amber Amber List (moderate evidence)
ITGB2
3 reviews
2 green
Unknown
Sources
  • Expert Review Amber
  • Expert list
Tags
Amber Amber List (moderate evidence)
LIG4
3 reviews
1 green
Not set
Sources
  • Expert Review Amber
  • Expert list
Tags
Amber Amber List (moderate evidence)
LRBA
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Immunodeficiency, common variable, 8, with autoimmunity (CVID 8) 614700
Tags
Amber Amber List (moderate evidence)
NCF2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Chronic granulomatous disease due to deficiency of NCF-2 233710
Tags
Amber Amber List (moderate evidence)
NCF4
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 613960
Tags
Amber Amber List (moderate evidence)
NOD2
1 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}
  • Crohn disease
  • Crohn Disease
Tags
Amber Amber List (moderate evidence)
PIK3CD
4 reviews
2 green
Not set
Sources
  • Expert Review Amber
  • Expert list
Tags
Amber Amber List (moderate evidence)
PIK3R1
4 reviews
1 green 1 red
Not set
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
Tags
Amber Amber List (moderate evidence)
PLCG2
4 reviews
1 green 1 red
Not set
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
Tags
Amber Amber List (moderate evidence)
PTEN
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Expert list
Phenotypes
  • PTEN hamartoma tumor syndrome
  • Bannayan-Riley-Ruvalcaba syndrome 153480
Tags
Amber Amber List (moderate evidence)
RET
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
  • Early Onset Inflammatory Bowel Disease
Tags
Amber Amber List (moderate evidence)
STAT1
5 reviews
1 green
Not set
Sources
  • Expert Review Amber
  • Expert list
Tags
Amber Amber List (moderate evidence)
ZAP70
4 reviews
1 green 1 red
Not set
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
Tags
Red Red List (low evidence)
ABCB1
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Ulcerative Colitis
  • {Inflammatory bowel disease 13}
Tags
Red Red List (low evidence)
AICDA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Immunodeficiency with hyper-IgM, type 2 605258
Tags
Red Red List (low evidence)
ATG16L1
0 reviews
Not set
Sources
  • Other
Phenotypes
  • {Inflammatory bowel disease (Crohn disease) 10}
  • Crohn disease
Tags
Red Red List (low 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
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Agammaglobulinemia and isolated hormone deficiency 307200
  • Agammaglobulinemia, X-linked 1 300755
Tags
Red Red List (low evidence)
CD3G
3 reviews
1 green 1 red
Not set
Sources
  • UKGTN
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
Tags
Red Red List (low evidence)
G6PC3
4 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
HLA-DQA1
0 reviews
Not set
Sources
  • Literature
Phenotypes
  • {Susceptability to coeliac disease}
Tags
Red Red List (low evidence)
HLA-DRB1
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Crohn disease
Tags
Red Red List (low evidence)
IL12B
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Crohn disease
Tags
Red Red List (low evidence)
IL23R
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Crohn disease
  • Ulcerative Colitis
Tags
Red Red List (low evidence)
IL6
0 reviews
Not set
Sources
  • Other
Phenotypes
  • {Crohn disease-associated growth failure}
Tags
Red Red List (low evidence)
IRF5
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Ulcerative Colitis
Tags
Red Red List (low evidence)
IRGM
0 reviews
Not set
Sources
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Inflammatory bowel disease 19, 612278
  • Crohn disease
  • {Inflammatory bowel disease (Crohn disease) 19}
Tags
Red Red List (low evidence)
JAK2
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Crohn disease
Tags
Red Red List (low evidence)
LRRK2
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Crohn disease
Tags
Red Red List (low evidence)
MAGI2
1 review
1 red
Unknown
Sources
  • Literature
Phenotypes
  • Celiac Disease
  • IBD
  • IBD
Tags
Red Red List (low evidence)
MUC2
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Crohn disease
Tags
Red Red List (low evidence)
MYO9B
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Celiac Disease
Tags
Red Red List (low evidence)
NLRC4
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Autoinflammation with infantile enterocolitis, 616050
Tags
Red Red List (low evidence)
PARD3
1 review
1 red
Unknown
Sources
  • Literature
Phenotypes
  • Enhanced Epithelial Permeability
Tags
Red Red List (low evidence)
PTPN2
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Ulcerative Colitis
Tags
Red Red List (low evidence)
SHANK3
1 review
Not set
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
SLC22A4
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Crohn disease
Tags
Red Red List (low evidence)
SLC22A5
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Crohn disease
Tags
Red Red List (low evidence)
SLC9A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diarrhea 8, secretory sodium, congenital, 616868
Tags
Red Red List (low evidence)
TGFBR1
4 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
TGFBR2
4 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
TYK2
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Crohn disease
Tags

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