Description
Early onset or familial intestinal pseudo obstruction inclusion criteria (41880)
A. Chronic visceral dilatation including part or all of the small intestine (chronic intestinal pseudo-obstruction)

AND one of:

B1. Diagnosis within first year of life (majority will have symptoms from the neonatal period)
B2. Diagnosis at any age but with at least one first or second degree relative with a diagnosis of either IPO or another severe digestive motility disorder (enteric dysmotility; oesophageal achalasia, megacolon, megarectum).

Individuals with severe or syndromic disease should be recruited according to standard guidance, typically as trios. Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease.

In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.

Early onset or familial intestinal pseudo obstruction exclusion criteria (41880)
Proven mitochondrial myopathy (MNGIE) [by MRI / muscle biopsy in suspected cases]
Proven early onset secondary cause e.g. muscular dystrophy or cystic fibrosis [with relevant testing if clinical suspicion]

Prior genetic testing guidance (41880)
- 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.

Early onset or familial intestinal pseudo obstruction prior genetic testing genes (41880)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 No genes specified

Closing statement (41880)
These requirements will be kept under continual review during the main programme and may be subject to change.

6 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • 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

27 Entities

27 reviewed, 15 green

List Entity Reviews Mode of inheritance Details
27 Entitiess
Green Green List (high evidence)
ACTG2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Visceral myopathy 155310
Tags
Green Green List (high evidence)
ATRX
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
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Alpha-thalassemia/mental retardation syndrome 301040
Tags
Green Green List (high evidence)
CLMP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital short bowel syndrome 615237
Tags
Green Green List (high evidence)
DES
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myopathy, myofibrillar, 1 601419
Tags
Green Green List (high evidence)
DMD
4 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Duchenne muscular dystrophy 310200
Tags
  • gene-therapy-trial
Green Green List (high evidence)
FLNA
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Intestinal pseudoobstruction, neuronal 300048
  • Congenital short bowel syndrome 300048
Tags
Green Green List (high evidence)
IDS
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
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mucopolysaccharidosis II 309900
Tags
Green Green List (high evidence)
POLG
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
Tags
Green Green List (high evidence)
RET
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • {Hirschsprung disease, susceptibility to, 1} 142623
Tags
  • polygenic
Green Green List (high evidence)
RRM2B
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
Tags
Green Green List (high evidence)
SAMD9
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MIRAGE syndrome 617053
Tags
  • missense
Green Green List (high evidence)
SCN11A
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VII 615548
Tags
Green Green List (high evidence)
SOX10
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Waardenburg syndrome, type 4C 613266
Tags
Green Green List (high evidence)
TMEM70
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052
Tags
Green Green List (high evidence)
TYMP
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041
Tags
Amber Amber List (moderate evidence)
GDNF
2 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Hirschsprung disease, susceptibility to, 3} 613711
Tags
  • polygenic
Amber Amber List (moderate evidence)
L1CAM
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hydrocephalus with congenital idiopathic intestinal pseudoobstruction 307000
Tags
Amber Amber List (moderate evidence)
PTEN
2 reviews
Not set
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Bannayan-Riley-Ruvalcaba syndrome 153480
Tags
Red Red List (low evidence)
CAVIN1
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Lipodystrophy, congenital generalized, type 4 613327
Tags
Red Red List (low evidence)
COG7
2 reviews
1 red
Unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital disorder of glycosylation, type IIe 608779
Tags
Red Red List (low evidence)
DMPK
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myotonic dystrophy 1 160900
Tags
  • nucleotide-repeat-expansion
Red Red List (low evidence)
DMPK_CTG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Myotonic dystrophy 1 160900
Tags
  • STR
Red Red List (low evidence)
EVC2
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Ellis-van Creveld syndrome, with chronic intestinal pseudo-obstruction 225500
Tags
Red Red List (low evidence)
MT-TK
3 reviews
2 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
Tags
Red Red List (low evidence)
SGO1
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Chronic atrial and intestinal dysrhythmia 616201
Tags
  • founder-effect
Red Red List (low evidence)
SMO
2 reviews
2 red
Other - please specify in evaluation comments
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Curry-Jones syndrome, somatic mosaic 601707
Tags
  • mosaicism
Red Red List (low evidence)
TTC7A
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome 243150
Tags

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