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

It has been compared against the Genomics England PanelApp 'Congenital hyperinsulinism' panel V2.3, with all discrepancies reviewed and resolved, and reciprocal feedback provided to Genomics England.

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

9 reviewers

  • Chloe Stutterd (Victorian Clinical Genetics Services)

  • Michelle de Silva (Victorian Clinical Genetics Services)

  • Anna Le Fevre (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

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

  • Chern Lim (Victorian Clinical Genetics Services)

25 Entities

25 reviewed, 21 green

List Entity Reviews Mode of inheritance Details
25 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
Phenotypes
  • 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)
CREBBP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 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
Phenotypes
  • Rubinstein-Taybi syndrome 2, OMIM #613684
Tags
Green Green List (high evidence)
FOXA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530
  • Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975
Tags
Green Green List (high evidence)
HK1
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026
  • MODY, type I, OMIM # 125850
Tags
Green Green List (high evidence)
INSR
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • 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
Phenotypes
  • {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
Phenotypes
  • 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
Phenotypes
  • Kabuki syndrome 1, MIM# 147920
Tags
Green Green List (high evidence)
MEN1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Insulinoma
  • Multiple endocrine neoplasia 1, MIM# 131100
Tags
Green Green List (high evidence)
MPI
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ib, MIM# 602579
Tags
Green Green List (high evidence)
NSD1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Sotos syndrome (OMIM#117550)
Tags
Green Green List (high evidence)
PGM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211
Tags
Amber Amber List (moderate evidence)
CACNA1D
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Hyperinsulinism
  • heart defect
  • hypotonia
Tags
Amber Amber List (moderate evidence)
TRMT10A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033
Tags
Amber Amber List (moderate evidence)
UCP2
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperinsulinism
Tags
Red Red List (low evidence)
EIF2S3
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • MEHMO syndrome, MIM# 300148
Tags

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