Description
This panel is used for clinical indication 'R331 Intestinal failure' 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'.

The content of this panel (version 1.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/514/?version=1.2) was signed off under NHS Genomic Medicine Service governance on (04/03/2020).

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.

8 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

  • 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

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

20 Entities

20 reviewed, 11 green

List Entity Reviews Mode of inheritance Details
20 Entitiess
Green Green List (high evidence)
DGAT1
2 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)
EPCAM
4 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)
GUCY2C
4 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)
MYO5B
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microvillus inclusion disease, OMIM:251850
Tags
Green Green List (high evidence)
SKIV2L
3 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)
SLC26A3
2 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)
SLC9A3
2 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
2 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
2 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
3 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)
TTC37
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Trichohepatoenteric syndrome 1, OMM:222470
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)
AP1S1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Non-syndromic congenital intestinal failure
  • MEDNIK syndrome, OMIM:609313
Tags
  • Q2_21_rating
Amber Amber List (moderate evidence)
CLMP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital short bowel syndrome, OMIM:615237
Tags
  • Q2_21_NHS_review
  • Q2_21_rating
Amber Amber List (moderate evidence)
FLNA
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital short bowel syndrome, OMIM:300048
  • Intestinal pseudoobstruction, neuronal, OMIM:300048
  • ?FG syndrome 2, OMIM:300321
Tags
  • Q2_21_NHS_review
  • Q2_21_rating
Amber Amber List (moderate evidence)
NEUROG3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Diarrhoea 4, malabsorptive, congenital, OMIM:610370
Tags
  • Q2_21_rating
Amber Amber List (moderate evidence)
PLVAP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Diarrhoea 10, protein-losing enteropathy type, OMIM:618183
Tags
  • Q2_21_rating
Amber Amber List (moderate evidence)
TMPRSS15
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Enterokinase deficiency, OMIM:226200
Tags
  • Q2_21_rating
Amber Amber List (moderate evidence)
WNT2B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Diarrhoea 9, OMIM:618168
Tags
  • Q2_21_rating
Red Red List (low evidence)
IL37
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Infantile inflammatory bowel disease
Tags

Major version comments

Downloads

Download lists

Download Version