Description
This panel is used for clinical indication 'R331 Intestinal failure or congenital diarrhoea' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R331 Intestinal failure or congenital diarrhoea'.

The content of this panel (version 2.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/514/?version=2.0) was signed off under NHS Genomic Medicine Service governance on (22/03/2022).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

10 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Miranda Durkie (Genetics)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Neil shah (GOSH)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Dmitrijs Rots (RadboudUMC)

    Group: Other
    Workplace: Research lab

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

47 Entities

47 reviewed, 44 green

List Entity Reviews Mode of inheritance Details
47 Entitiess
Green Green List (high evidence)
ADAM17
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Inflammatory skin and bowel disease, neonatal, 1, OMIM:614328
Tags
Green Green List (high evidence)
ADAMTS3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 3, OMIM:618154
Tags
Green Green List (high evidence)
ANGPTL3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypobetalipoproteinemia, familial, 2, OMIM:605019
Tags
Green Green List (high evidence)
AP1S1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Non-syndromic congenital intestinal failure
  • MEDNIK syndrome, OMIM:609313
Tags
Green Green List (high evidence)
APOB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypobetalipoproteinemia, OMIM:615558
Tags
Green Green List (high evidence)
ARX
1 review
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
Phenotypes
  • Lissencephaly, X-linked 2, OMIM:300215
Tags
Green Green List (high evidence)
CCBE1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Tags
Green Green List (high evidence)
CD55
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, OMIM:226300
Tags
Green Green List (high evidence)
CLMP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital short bowel syndrome, OMIM:615237
Tags
Green Green List (high evidence)
CTLA4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation, OMIM:616100
  • {Celiac disease, susceptibility to, 3}, OMIM:609755
Tags
Green Green List (high evidence)
DGAT1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital diarrheal disorder
  • ?Diarrhea 7, protein-losing enteropathy type, OMIM:615863
Tags
Green Green List (high evidence)
EGFR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069
Tags
Green Green List (high evidence)
EPCAM
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217
Tags
Green Green List (high evidence)
FAT4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 2, OMIM:616006
Tags
Green Green List (high evidence)
FLNA
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital short bowel syndrome, OMIM:300048
  • Intestinal pseudoobstruction, neuronal, OMIM:300048
  • ?FG syndrome 2, OMIM:300321
Tags
Green Green List (high evidence)
FOXP3
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, OMIM:304790
Tags
Green Green List (high evidence)
GUCY2C
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Familial Diarrhea 6, OMIM:614616
Tags
Green Green List (high evidence)
ICOS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency, common variable, 1, OMIM:607594
Tags
Green Green List (high evidence)
KMT2D
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Kabuki syndrome 1, OMIM:147920
Tags
Green Green List (high evidence)
LCT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lactase deficiency, congenital, OMIM:223000
Tags
Green Green List (high evidence)
LRBA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700
Tags
Green Green List (high evidence)
MTTP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Abetalipoproteinemia, OMIM:200100
Tags
Green Green List (high evidence)
MYO5B
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diarrhea 2, with microvillus atrophy, OMIM:251850
Tags
Green Green List (high evidence)
NEUROG3
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Diarrhoea 4, malabsorptive, congenital, OMIM:610370
Tags
Green Green List (high evidence)
PCSK1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Obesity with impaired prohormone processing, OMIM:600955
Tags
Green Green List (high evidence)
PLVAP
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Diarrhoea 10, protein-losing enteropathy type, OMIM:618183
Tags
Green Green List (high evidence)
RFX6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitchell-Riley syndrome, OMIM:615710
Tags
Green Green List (high evidence)
SAR1B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Chylomicron retention disease, OMIM:246700
Tags
Green Green List (high evidence)
SI
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Sucrase-isomaltase deficiency, congenital, OMIM:222900
Tags
Green Green List (high evidence)
SKIV2L
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Trichohepatoenteric syndrome 2, OMIM:614602
Tags
Green Green List (high evidence)
SLC10A2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Bile acid malabsorption, primary, 1, OMIM:613291
Tags
Green Green List (high evidence)
SLC26A3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diarrhea 1, secretory chloride, congenital, OMIM:214700
Tags
Green Green List (high evidence)
SLC39A4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Acrodermatitis enteropathica, OMIM:201100
Tags
Green Green List (high evidence)
SLC5A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glucose/galactose malabsorption, OMIM:606824
Tags
Green Green List (high evidence)
SLC9A3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diarrhea 8, secretory sodium, congenital, OMM:616868
Tags
Green Green List (high evidence)
SPINT2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420
Tags
Green Green List (high evidence)
STX3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microvillus inclusion disease, MONDO:0009635
  • diarrheal disorder, MONDO:0001673
Tags
Green Green List (high evidence)
STXBP2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 5, OMIM:613101
Tags
Green Green List (high evidence)
TERT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Tags
Green Green List (high evidence)
TMPRSS15
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Enterokinase deficiency, OMIM:226200
Tags
Green Green List (high evidence)
TTC37
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Trichohepatoenteric syndrome 1, OMM:222470
Tags
Green Green List (high evidence)
TTC7A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150
Tags
Green Green List (high evidence)
WNT2B
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Diarrhoea 9, OMIM:618168
Tags
Green Green List (high evidence)
XIAP
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 2, OMIM:300635
Tags
Amber Amber List (moderate evidence)
AGR2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cystic fibrosis-like syndrome
  • chronic diarrhoea
Tags
  • Q1_22_rating
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
Red Red List (low evidence)
IL37
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Infantile inflammatory bowel disease
Tags

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