Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: PDX1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
Mode of inheritance for PDX1 was changed to BIALLELIC, autosomal or pseudoautosomal
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.
Model of inheritance for gene PDX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene PDX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene PDX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene PDX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene PDX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene PDX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene PDX1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene PDX1 was changed to BIALLELIC, autosomal or pseudoautosomal
PDX1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN
PDX1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Emory Genetics Laboratory
PDX1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen