PanelApp (test)
  1. Panels
  2. Hyperinsulinism
Description
This panel was developed by and is maintained by VCGS and RMH.

This panel contains genes associated with hyperinsulinism (non-syndromic and syndromic). 

It has been compared against the Genomics England PanelApp 'Congenital hyperinsulinism' panel V3.5, with all discrepancies reviewed and resolved (August 2025).

For severe, persistent hypoglycaemia, consider also applying the Metabolic Disorders Superpanel, or more specifically, the Glycogen Storage Diseases and Fatty Acid Oxidation Defects panels.

If features of the following diagnoses, request alternate genetic test listed:
a) Beckwith-Wiedeman syndrome - request BWS methylation studies
b) Congenital central hypoventilation syndrome - request PHOX2B poly-A expansion repeat testing
Panel Activity

10 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • chirag patel (Genetic Health Queensland)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Michelle de Silva (Victorian Clinical Genetics Services)

  • Chloe Stutterd (Victorian Clinical Genetics Services)

  • Anna Le Fevre (Victorian Clinical Genetics Services)

  • Krithika Murali (Pathology Queensland)

35 Entities

35 reviewed, 27 green

List Entity Reviews Mode of inheritance Details
35 Entitiess
Green Green List (high evidence)
ABCC8
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Diabetes mellitus, noninsulin-dependent MIM#125853
  • Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857
  • Diabetes mellitus, transient neonatal 2 MIM#610374
  • Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450
  • Hypoglycemia of infancy, leucine-sensitive MIM#240800
Tags
Green Green List (high evidence)
ADK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Adenosine kinase deficiency MONDO:0100255
Tags
Green Green List (high evidence)
AKT2
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy - MONDO:0009416
Tags
Green Green List (high evidence)
CDKN1C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Beckwith-Wiedemann syndrome due to CDKN1C mutation MONDO:0016476
Tags
Green Green List (high evidence)
CREBBP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Rubinstein-Taybi syndrome 1, OMIM #180849
Tags
Green Green List (high evidence)
EP300
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Rubinstein-Taybi syndrome 2, OMIM #613684
Tags
Green Green List (high evidence)
FAH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Tyrosinemia type I MONDO:0010161
Tags
Green Green List (high evidence)
FOXA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Hyperinsulinaemia
Tags
Green Green List (high evidence)
GCK
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853)
  • Diabetes mellitus, permanent neonatal 1, AR (MIM#606176)
  • Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485)
  • MODY, type II, AD (MIM#125851)
Tags
Green Green List (high evidence)
GLUD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Hyperinsulinism-hyperammonemia syndrome, MIM# 606762
Tags
Green Green List (high evidence)
HADH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530
  • Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975
Tags
Green Green List (high evidence)
HK1
3 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Hyperinsulinism MONDO:0002177, HK1-related
Tags
  • deep intronic
Green Green List (high evidence)
HNF1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Diabetes mellitus, insulin-dependent, 20, MIM# 612520
  • MODY, type III , MIM#600496
Tags
Green Green List (high evidence)
HNF4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026
  • MODY, type I, OMIM # 125850
Tags
Green Green List (high evidence)
HRAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Costello syndrome MONDO:0009026
Tags
Green Green List (high evidence)
INSR
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Disease associations
  • Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968
Tags
Green Green List (high evidence)
KCNJ11
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • {Diabetes mellitus, type 2, susceptibility to} 125853
  • Diabetes mellitus, transient neonatal, 3 610582
  • Diabetes, permanent neonatal, with or without neurologic features 606176
  • Hyperinsulinemic hypoglycemia, familial, 2 601820
  • Maturity-onset diabetes of the young, type 13 616329 AD
Tags
Green Green List (high evidence)
KDM6A
2 reviews
2 green 		Other
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Kabuki syndrome 2, MIM# 300867
Tags
Green Green List (high evidence)
KMT2D
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Kabuki syndrome 1, MIM# 147920
Tags
Green Green List (high evidence)
MAFA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Insulinomatosis and diabetes mellitus, OMIM #:147630
Tags
Green Green List (high evidence)
MAGEL2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Schaaf-Yang syndrome, MIM# 615547
Tags
Green Green List (high evidence)
MEN1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Disease associations
  • Insulinoma
  • Multiple endocrine neoplasia 1, MIM# 131100
Tags
Green Green List (high evidence)
NSD1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Sotos syndrome (OMIM#117550)
Tags
Green Green List (high evidence)
PGM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Congenital disorder of glycosylation, type It, OMIM# 614921
Tags
Green Green List (high evidence)
PMM2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Disease associations
  • Polycystic Kidney Disease
  • Hyperinsulinemic Hypoglycemia
Tags
  • 5'UTR
Green Green List (high evidence)
SLC16A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Erythrocyte lactate transporter defect, MIM# 245340
  • Hyperinsulinemic hypoglycaemia, familial, 7, MIM# 610021
  • Monocarboxylate transporter 1 deficiency, MIM# 616095
Tags
Green Green List (high evidence)
SLC25A36
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211
Tags
Amber Amber List (moderate evidence)
CACNA1C
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Disease associations
  • Hyperinsulinism, MONDO:0002177, CACNA1C-related
  • Timothy syndrome, MIM# 601005
Tags
Amber Amber List (moderate evidence)
CACNA1D
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Disease associations
  • Hyperinsulinism
  • heart defect
  • hypotonia
Tags
Amber Amber List (moderate evidence)
UCP2
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Hyperinsulinism
Tags
Red Red List (low evidence)
EIF2S3
2 reviews
2 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • MEHMO syndrome, MIM# 300148
Tags
Red Red List (low evidence)
GPC3
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Simpson-Golabi-Behmel syndrome, type 1 MIM#312870
Tags
Red Red List (low evidence)
MPI
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Congenital disorder of glycosylation, type Ib, MIM# 602579
Tags
Red Red List (low evidence)
TRMT10A
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033
Tags
Red Red List (low evidence)
YARS1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Tags

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