Description
This panel is used for clinical indication 'R144 Congenital hyperinsulinism', and can also be applied as a virtual panel in the analysis of genome or exome data 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 'R144 Congenital hyperinsulinism'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

7 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

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Jayne Houghton (Royal Devon and Exeter Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

19 Entities

19 reviewed, 15 green

List Entity Reviews Mode of inheritance Details
19 Entitiess
Green Green List (high evidence)
ABCC8
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperinsulinism, Dominant/Recessive
  • Hyperinsulinemic hypoglycemia, familial, 1, 256450
Tags
Green Green List (high evidence)
GCK
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperinsulinism, Dominant
  • MODY, type II, 125851
Tags
Green Green List (high evidence)
GLUD1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperinsulinism-hyperammonemia syndrome, 606762
  • Hyperinsulinism, Dominant
Tags
Green Green List (high evidence)
HADH
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • 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
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
HNF4A
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
Phenotypes
  • Hyperinsulinism, Dominant
Tags
Green Green List (high evidence)
KCNJ11
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperinsulinism, Dominant/Recessive
  • Hyperinsulinemic hypoglycemia, familial, 2, 601820
Tags
Green Green List (high evidence)
SLC16A1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperinsulinism, Dominant
  • Erythrocyte lactate transporter defect, 245340
Tags
Green Green List (high evidence)
AKT2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • hypoinsulinemic hypoketotic hypoglycemia
Tags
Green Green List (high evidence)
FOXA2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperinsulinism
  • hypopituitarism
Tags
Green Green List (high evidence)
GPC3
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • neonatal hypoglycaemia
  • distinctive craniofacies, congenital heart defects, genitourinary defects, GI anomalies, skeletal anomalies
  • supernumerary nipples
Tags
Green Green List (high evidence)
INSR
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leprechaunism, 246200
  • hyperinsulinemic hypoglycaemia
Tags
Green Green List (high evidence)
KDM6A
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Kabuki syndrome 2
Tags
Green Green List (high evidence)
KMT2D
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Kabuki syndrome 1
Tags
Green Green List (high evidence)
PMM2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperinsulinemic Hypoglycaemia
  • polycystic kidney disease
Tags
Red Red List (low evidence)
CACNA1D
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • hyperinsulinaemic hypoglycaemia, heart defects
  • severe hypotonia
Tags
Red Red List (low evidence)
MAFA
2 reviews
1 green 1 red
Not set
Sources
  • NHS GMS
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
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
Tags

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