Diabetes with additional phenotypes suggestive of a monogenic aetiology

Gene: PDX1

Green List (high evidence)

PDX1 (pancreatic and duodenal homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000139515
EnsemblGeneIds (GRCh37): ENSG00000139515
OMIM: 600733, Gene2Phenotype
PDX1 is in 10 panels

2 reviews

Sian Ellard (University of Exeter Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed from Both to biallelic due to reviewer feedback. there is only one dominantly acting PDX1 mutation that causes MODY: it has been shown to have a dominant negative functional effect and been identified in just two families in the world.
Created: 18 Aug 2016, 1:11 p.m.
Biallelic for Permanent neonatal diabetes, Monoallelic for MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4.
Created: 17 Jul 2015, 3:15 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • MODY type IV
  • Maturity-onset diabetes of the young (MODY)
  • Maturity-Onset Diabetes Of The Young
  • Permanent neonatal diabetes
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4
  • MODY4
OMIM
600733
Clinvar variants
Variants in PDX1
Penetrance
Complete
Panels with this gene

History Filter Activity

18 Aug 2016, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PDX1 was changed to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2016, Gel status: 3

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PDX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PDX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PDX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PDX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PDX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PDX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PDX1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PDX1 was changed to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PDX1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN

17 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PDX1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Emory Genetics Laboratory

17 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PDX1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen