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  2. Congenital Diarrhoea

Congenital Diarrhoea (Version 1.13)

Level 2: Gastroenterological disorders

Relevant disorders: Diarrhea HP:0002014
Panel types: Victorian Clinical Genetics Services, Rare Disease
Description
This panel was developed and is maintained by VCGS.

Congenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.

CDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.
Panel Activity

2 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

  • Ee Ming Wong (Victorian Clinical Genetics Services)

40 Entities

40 reviewed, 32 green

List Entity Reviews Mode of inheritance Details
40 Entitiess
Green List (high evidence)
AGR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD), MIM#620233
Tags
Green List (high evidence)
AIRE
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Tags
Green List (high evidence)
APOB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypobetalipoproteinemia, MIM# 615558
Tags
Green List (high evidence)
CFTR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cystic fibrosis, MIM# 219700
Tags
Green List (high evidence)
DGAT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diarrhoea 7, protein-losing enteropathy type, MIM# 615863
Tags
  • treatable
Green List (high evidence)
EPCAM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217
Tags
Green List (high evidence)
FOXP3
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked , MIM#304790
Tags
  • treatable
Green List (high evidence)
GUCY2C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diarrhoea 6, MIM# 614616
Tags
Green List (high evidence)
LCT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lactase deficiency, congenital, MIM# 223000
Tags
Green List (high evidence)
MPI
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ib, MIM# 602579
  • MPI-CDG MONDO:0011257
Tags
Green List (high evidence)
MTTP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Abetalipoproteinemia, MIM# 200100
Tags
  • treatable
Green List (high evidence)
MYO5B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microvillus inclusion disease, MIM# 251850
Tags
Green List (high evidence)
NEUROG3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diarrhoea 4, malabsorptive, congenital, MIM# 610370
Tags
Green List (high evidence)
PCSK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Obesity with impaired prohormone processing, MIM# 600955
Tags
Green List (high evidence)
PLVAP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diarrhoea 10, protein-losing enteropathy type, MIM# 618183
Tags
Green List (high evidence)
PRSS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pancreatitis, hereditary, MIM# 167800
Tags
Green List (high evidence)
SAR1B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Chylomicron retention disease, MIM# 246700
Tags
Green List (high evidence)
SBDS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Shwachman-Diamond syndrome, MIM# 260400
Tags
Green List (high evidence)
SI
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sucrase-isomaltase deficiency, congenital, MIM# 222900
Tags
Green List (high evidence)
SKIV2L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichohepatoenteric syndrome 2, MIM# 614602
Tags
Green List (high evidence)
SLC26A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diarrhoea 1, secretory chloride, congenital, MIM# 214700
Tags
Green List (high evidence)
SLC39A4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Acrodermatitis enteropathica, MIM# 201100
Tags
Green List (high evidence)
SLC5A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glucose/galactose malabsorption, MIM# 606824
Tags
Green List (high evidence)
SLC7A7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lysinuric protein intolerance, MIM# 222700
Tags
Green List (high evidence)
SLC9A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diarrhoea 8, secretory sodium, congenital 616868
Tags
Green List (high evidence)
SPINT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diarrhoea 3, secretory sodium, congenital, syndromic 270420
  • MONDO:0010036
Tags
  • founder
Green List (high evidence)
STX3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microvillus inclusion disease, MIM#619445
  • Retinal dystrophy and microvillus inclusion disease, MIM#619446
Tags
Green List (high evidence)
STXBP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101
  • Enteropathy
Tags
Green List (high evidence)
TMPRSS15
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Enterokinase deficiency, MIM# 226200
Tags
Green List (high evidence)
TTC37
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichohepatoenteric syndrome 1, MIM# 222470
Tags
Green List (high evidence)
UNC45A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteootohepatoenteric syndrome, MIM# 619377
  • Cholestasis
  • Diarrhoea
  • Bone fragility
  • Impaired hearing
Tags
Green List (high evidence)
WNT2B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diarrhoea 9, MIM# 618168
Tags
Amber List (moderate evidence)
ANO1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intestinal dysmotility syndrome, MIM# 620045
  • Impaired intestinal peristalsis
  • haemorrhagic diarrhoea
  • dysmorphic features
Tags
Amber List (moderate evidence)
AP1S1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Non-syndromic congenital intestinal failure
Tags
Red List (low evidence)
ABAT
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • GABA-transaminase deficiency, MIM# 613163
Tags
Red List (low evidence)
ACSL5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Diarrhoea 13, MIM# 620357
Tags
Red List (low evidence)
SLC10A2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Bile acid malabsorption, primary, MIM# 613291
Tags
Red List (low evidence)
SLC2A2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi-Bickel syndrome, MIM# 227810
Tags
Red List (low evidence)
SLC51A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cholestasis, progressive familial intrahepatic, 6, MIM# 619484
Tags
Red List (low evidence)
SLC51B
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Bile acid malabsorption, primary, 2, MIM# 619481
  • Congenital diarrhoea
  • Cholestasis
Tags

Major version comments

  • 2021-01-05 10:50 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Fully reviewed and promoted to V1.

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  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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