PanelApp
  1. Panels
  2. Maturity-onset Diabetes of the Young
Description
This panel contains genes that cause maturity-onset diabetes of the young (MODY). It was developed for use in the endocrine genetics clinic at Royal Melbourne Hospital.
Panel Activity

9 reviewers

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Chirag Patel (Genetic Health Queensland)

  • Hali Van Niel (University of Melbourne)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Seb Lunke (Victorian Clinical Genetics Services)

  • Krithika Murali (Victorian Clinical Genetics Services)

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

19 Entities

19 reviewed, 12 green

List Entity Reviews Mode of inheritance Details
19 Entitiess
Green Green List (high evidence)
ABCC8
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Diabetes mellitus, permanent neonatal, 6
  • Hyperinsulinemic hypoglycemia, familial, 1, 256450
  • Transient Neonatal Diabetes, Dominant
  • Hypoglycemia of infancy, leucine-sensitive, 240800
  • Permanent Neonatal Diabetes Mellitus (recessive)
  • Diabetes mellitus, transient neonatal 2, 610374
  • Diabetes mellitus, noninsulin-dependent, 125853
  • Permanent Neonatal Diabetes Mellitus
Tags
Green Green List (high evidence)
CEL
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Maturity-onset diabetes of the young, type VIII, 609812
Tags
Green Green List (high evidence)
GCK
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
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)
HNF1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Maturity Onset Diabetes of the Young
  • MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520
Tags
Green Green List (high evidence)
HNF1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal cysts and diabetes syndrome, 137920
Tags
  • cnv
Green Green List (high evidence)
HNF4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Maturity Onset Diabetes of the Young
  • MODY, type I, 125850
  • OMIM 616026
Tags
Green Green List (high evidence)
INS
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • monogenic diabetes MONDO:0015967
  • Diabetes mellitus, insulin-dependent, 2, MIM# 125852
  • Diabetes mellitus, permanent neonatal 4, MIM# 618858
  • Maturity-onset diabetes of the young, type 10, MIM# 613370
Tags
Green Green List (high evidence)
KCNJ11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582
  • Maturity Onset Diabetes of the Young
Tags
Green Green List (high evidence)
NEUROD1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Maturity Onset Diabetes of the Young
  • {Diabetes mellitus, noninsulin-dependent}, 125853
Tags
Green Green List (high evidence)
PCBD1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • MODY
Tags
Green Green List (high evidence)
PDX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Pancreatic agenesis 1 - MIM#260370 (AR)
  • MODY, type IV - MIM#606392(AD)
Tags
Green Green List (high evidence)
RFX6
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • maturity-onset diabetes of the young MONDO:0018911
Tags
Red Red List (low evidence)
APPL1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • {Maturity-onset diabetes of the young, type 14}, 616511
Tags
Red Red List (low evidence)
BLK
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Maturity-onset diabetes of the young, type 11 MIM#613375
Tags
  • refuted
Red Red List (low evidence)
GATA6
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Other
Tags
Red Red List (low evidence)
KLF11
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Maturity Onset Diabetes of the Young
  • Maturity-onset diabetes of the young, type VII, 610508
Tags
Red Red List (low evidence)
PAX4
4 reviews
3 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Maturity Onset Diabetes of the Young
  • Maturity-onset diabetes of the young, type IX, 612225
Tags
  • refuted
Red Red List (low evidence)
SLC19A2
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • maturity-onset diabetes of the young MONDO:0018911
Tags
Red Red List (low evidence)
WFS1
2 reviews
2 red 		Unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • maturity-onset diabetes of the young MONDO:0018911
Tags

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