Description
Hyperinsulinism inclusion criteria (29423)
- Hypoglycaemia onset before 12 years of age
- Drug-treated for >=3 months or pancreatectomy
- Intravenous glucose infusion rate required to maintain normoglycaemia >8mg/kg/min
- Detectable serum insulin or C-Peptide when blood glucose is less than 3mmol/L

Hyperinsulinism exclusion criteria (29423)
- Hypoglycaemia in the neonatal period which resolved without treatment
- Hypoglycaemia in the context of systemic neonatal disease e.g. sepsis

Prior genetic testing guidance (29423)
- 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.

Closing statement (29423)
These requirements will be kept under continual review during the main programme and may be subject to change.

4 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Sian Ellard (University of Exeter Medical School)

    Group: other
    Workplace: other

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

11 Entities

11 reviewed, 8 green

List Entity Reviews Mode of inheritance Details
11 Entitiess
Green Green List (high evidence)
ABCC8
1 review
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
  • Hyperinsulinism, Dominant/Recessive
  • Hyperinsulinemic hypoglycemia, familial, 1, 256450
Tags
Green Green List (high evidence)
GCK
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperinsulinism, Dominant
  • MODY, type II, 125851
Tags
Green Green List (high evidence)
GLUD1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperinsulinism-hyperammonemia syndrome, 606762
  • Hyperinsulinism, Dominant
Tags
Green Green List (high evidence)
HADH
1 review
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
  • Congenital hyperinsulinemic hypoglycemia (HH)
  • Hyperinsulinism, Dominant/Recessive
  • 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530
Tags
Green Green List (high evidence)
HNF1A
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Tags
Green Green List (high evidence)
HNF4A
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hyperinsulinism, Dominant
Tags
Green Green List (high evidence)
KCNJ11
2 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
  • Hyperinsulinism, Dominant/Recessive
  • Hyperinsulinemic hypoglycemia, familial, 2, 601820
Tags
Green Green List (high evidence)
SLC16A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperinsulinism, Dominant
  • Erythrocyte lactate transporter defect, 245340
Tags
Red Red List (low evidence)
INSR
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leprechaunism, 246200
Tags
Red Red List (low evidence)
RYR3
3 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotypeEpileptic encephalopathy (Appenzeller (2014) Am J Hum Genet 95, 360)Hyperinsulinism (Proverbio (2013) PLoS One 8, e68740)Schizophrenia (Fromer (2014) Nature 506, 179)Lennox-Gastaut syndrome (Appenzeller (2014) Am J Hum Genet 95, 360)
Tags
Red Red List (low evidence)
TRMT10A
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Tags

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