Familial diabetes

Gene: PDX1

Green List (high evidence)

PDX1 (pancreatic and duodenal homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000139515
EnsemblGeneIds (GRCh37): ENSG00000139515
OMIM: 600733, Gene2Phenotype
PDX1 is in 8 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: PDX1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Recessive neonatal diabetes, pancreatic agenesis and dominant MODY.
Created: 11 Jan 2019, 10:04 a.m.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: As suggested by reviewer.
Created: 7 Jun 2016, 9:39 a.m.
Comment on list classification: Promoted from amber to green due to expert review. Multiple reports in OMIM, for different variants.
Created: 7 Jun 2016, 9:36 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Pancreatic agenesis 1
OMIM
600733
Clinvar variants
Variants in PDX1
Penetrance
Complete
Panels with this gene

History Filter Activity

15 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PDX1 were set to Pancreatic agenesis 1

7 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

PDX1 was added to Familial diabetespanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

PDX1 was added to Familial diabetespanel. Sources: Emory Genetics Laboratory