Familial diabetes
Gene: PDX1
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for PDX1 were set to Pancreatic agenesis 1
Mode of inheritance for PDX1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PDX1 was added to Familial diabetespanel. Sources: UKGTN
PDX1 was added to Familial diabetespanel. Sources: Emory Genetics Laboratory