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 genes

61 reviewed, 5 green

List Gene Reviews Mode of inheritance Details
82 genes
Green Green List (high evidence)
IL10RA
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
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
Green Green List (high evidence)
IL10RB
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Illumina TruGenome Clinical Sequencing Services
  • 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
Green Green List (high evidence)
MYO5B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
Phenotypes
  • Microvillus inclusion disease 251850
  • Microvillus inclusion disease
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
  • Trichohepatoenteric Syndrome
  • Inflammatory Bowel Disease (Very Early Onset)
Green Green List (high evidence)
TTC37
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Trichohepatoenteric syndrome 1, 222470
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Trichohepatoenteric syndrome 1 222470
Amber Amber List (moderate evidence)
ADA
3 reviews
2 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome, 243150
  • Inflammatory Bowel Disease (Very Early Onset)
Amber Amber List (moderate evidence)
ADAM17
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
  • Expert list
  • 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
Amber Amber List (moderate evidence)
EPCAM
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
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
  • Lynch Syndrome
Amber Amber List (moderate evidence)
LRBA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Immunodeficiency, common variable, 8, with autoimmunity (CVID 8) 614700
Amber Amber List (moderate evidence)
NCF2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Chronic granulomatous disease due to deficiency of NCF-2 233710
Amber Amber List (moderate evidence)
NCF4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 613960
Amber Amber List (moderate evidence)
NOD2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Inflammatory bowel disease 1, Crohn disease}
  • Crohn disease
  • Crohn Disease
Amber Amber List (moderate evidence)
RET
0 reviews
Not set
Sources
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
  • Early Onset Inflammatory Bowel Disease
Amber Amber List (moderate 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
  • UKGTN
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Lymphoproliferative syndrome, X-linked, 1 308240
Amber Amber List (moderate evidence)
SLC37A4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Glycogen storage disease type 1b 232220
Amber Amber List (moderate evidence)
STXBP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Hemophagocytic lymphohistiocytosis, familial, 5 613101
Amber Amber List (moderate 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
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Wiskott-Aldrich syndrome 301000
Tags
  • gene-therapy-trial
Amber Amber List (moderate 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
  • UKGTN
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Lymphoproliferative syndrome, X-linked, 2 300635
Red Red List (low evidence)
ABCB1
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Ulcerative Colitis
  • {Inflammatory bowel disease 13}
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
Red Red List (low evidence)
ATG16L1
0 reviews
Not set
Sources
  • Other
Phenotypes
  • {Inflammatory bowel disease (Crohn disease) 10}
  • Crohn disease
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
Red Red List (low evidence)
CD3G
3 reviews
1 green 1 red
Not set
Sources
  • UKGTN
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
Red Red List (low evidence)
CD40LG
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Immunodeficiency, X-linked, with hyper-IgM 308230
Red Red List (low evidence)
COL7A1
2 reviews
1 green
Not set
Sources
  • Expert list
Phenotypes
  • Dystrophic epidermolysis bullosa
Red Red List (low evidence)
CTLA4
3 reviews
2 green
Not set
Sources
  • Expert list
Phenotypes
  • CTLA4 deficiency
Red Red List (low evidence)
CYBA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Chronic granulomatous disease, autosomal, due to deficiency of CYBA 233690
Red Red List (low 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
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Chronic granulomatous disease, X-linked 306400
Red Red List (low evidence)
DCLRE1C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Omenn syndrome 603554
  • Severe combined immunodeficiency, Athabascan type 602450
Red Red List (low evidence)
DOCK8
2 reviews
1 green
Not set
Sources
  • Expert list
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
Red Red List (low evidence)
FERMT1
2 reviews
1 green
Not set
Sources
  • Expert list
Phenotypes
  • Kindler syndrome
Red Red List (low 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
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) 304790
Red Red List (low evidence)
G6PC3
3 reviews
1 green
Not set
Sources
  • Expert list
Red Red List (low evidence)
GUCY2C
3 reviews
2 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Diarrhea 6, 614616
Red Red List (low evidence)
HLA-DQA1
0 reviews
Not set
Sources
  • Literature
Phenotypes
  • {Susceptability to coeliac disease}
Red Red List (low evidence)
HLA-DRB1
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Crohn disease
Red Red List (low evidence)
HPS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Hermansky-Pudlak syndrome 1 203300
Red Red List (low evidence)
HPS4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Hermansky-Pudlak syndrome 4 614073
Red Red List (low evidence)
HPS6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Hermansky-Pudlak syndrome 6 614075
Red Red List (low evidence)
ICOS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Immunodeficiency, common variable, 1 607594
Red Red List (low evidence)
IKBKG
3 reviews
1 green
Unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Immunodeficiency 33, 300636
  • Immunodeficiency, isolated, 300584
Red Red List (low evidence)
IL10
3 reviews
1 green
Not set
Sources
  • UKGTN
  • Other
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
  • Crohn disease
Red Red List (low evidence)
IL12B
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Crohn disease
Red Red List (low evidence)
IL23R
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Crohn disease
  • Ulcerative Colitis
Red Red List (low evidence)
IL2RA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Immunodeficiency 41 with lymphoproliferation and autoimmunity (IPEX-like) 606367
Red Red List (low evidence)
IL2RG
3 reviews
2 green
Not set
Sources
  • UKGTN
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
Red Red List (low evidence)
IL6
0 reviews
Not set
Sources
  • Other
Phenotypes
  • {Crohn disease-associated growth failure}
Red Red List (low evidence)
IRF5
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Ulcerative Colitis
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}
Red Red List (low evidence)
ITGB2
2 reviews
2 green
Not set
Sources
  • Expert list
Red Red List (low evidence)
JAK2
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Crohn disease
Red Red List (low evidence)
LIG4
2 reviews
1 green
Not set
Sources
  • Expert list
Red Red List (low evidence)
LRRK2
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Crohn disease
Red Red List (low evidence)
MAGI2
1 review
1 red
Unknown
Sources
  • Literature
Phenotypes
  • Celiac Disease
  • IBD
  • IBD
Red Red List (low evidence)
MEFV
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Familial Mediterranean fever, AD 134610
  • Familial Mediterranean fever, AR 249100
Red Red List (low evidence)
MUC2
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Crohn disease
Red Red List (low evidence)
MVK
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Hyper-IgD syndrome 260920
  • Mevalonic aciduria 610377
Red Red List (low evidence)
MYO9B
1 review
1 red
Unknown
Sources
  • Literature
Phenotypes
  • Celiac Disease
Red Red List (low evidence)
NCF1
3 reviews
2 green
Not set
Sources
  • UKGTN
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
Red Red List (low evidence)
NLRC4
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Autoinflammation with infantile enterocolitis, 616050
Red Red List (low evidence)
OTULIN
2 reviews
1 green
Not set
Sources
  • Expert list
Red Red List (low evidence)
PARD3
1 review
1 red
Unknown
Sources
  • Literature
Phenotypes
  • Enhanced Epithelial Permeability
Red Red List (low evidence)
PIK3CD
3 reviews
2 green
Not set
Sources
  • Expert list
Red Red List (low evidence)
PIK3R1
3 reviews
1 green 1 red
Not set
Sources
  • UKGTN
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
Red Red List (low evidence)
PLCG2
3 reviews
1 green 1 red
Not set
Sources
  • UKGTN
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
Red Red List (low evidence)
PTEN
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • PTEN hamartoma tumor syndrome
  • Bannayan-Riley-Ruvalcaba syndrome 153480
Red Red List (low evidence)
PTPN2
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Ulcerative Colitis
Red Red List (low evidence)
RAG1
3 reviews
1 green
Not set
Sources
  • Expert list
Red Red List (low evidence)
RAG2
2 reviews
2 green
Not set
Sources
  • UKGTN
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
Red Red List (low evidence)
RTEL1
3 reviews
1 green
Not set
Sources
  • Expert list
Red Red List (low evidence)
SAMD9
1 review
1 green
Not set
Sources
  • Expert list
Red Red List (low evidence)
SLC22A4
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Crohn disease
Red Red List (low evidence)
SLC22A5
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Crohn disease
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
Red Red List (low evidence)
STAT1
4 reviews
1 green
Not set
Sources
  • Expert list
Red Red List (low evidence)
STAT3
2 reviews
1 green
Not set
Sources
  • Other
  • Expert list
Phenotypes
  • Crohn disease
Red Red List (low evidence)
TGFBR1
3 reviews
1 green
Not set
Sources
  • Expert list
Red Red List (low evidence)
TGFBR2
3 reviews
1 green
Not set
Sources
  • Expert list
Red Red List (low evidence)
TTC7A
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome, 243150
Red Red List (low evidence)
TYK2
0 reviews
Not set
Sources
  • Other
Phenotypes
  • Crohn disease
Red Red List (low evidence)
ZAP70
3 reviews
1 green 1 red
Not set
Sources
  • UKGTN
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
No list No list
SHANK3
0 reviews
Not set

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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