Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: PDX1EnsemblGeneIds (GRCh38): ENSG00000139515
EnsemblGeneIds (GRCh37): ENSG00000139515
OMIM: 600733, Gene2Phenotype
PDX1 is in 8 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
-
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- Multi-organ autoimmune diabetes
- Monogenic diabetes
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PDX1 was changed to BIALLELIC, autosomal or pseudoautosomal
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.
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
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
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
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
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
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
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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PDX1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)PDX1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN
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
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