Familial diabetes
Gene: PDX1
PDX1 (pancreatic and duodenal homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000139515
EnsemblGeneIds (GRCh37): ENSG00000139515
OMIM: 600733, Gene2Phenotype
PDX1 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000139515
EnsemblGeneIds (GRCh37): ENSG00000139515
OMIM: 600733, Gene2Phenotype
PDX1 is in 8 panels
3 reviews
Ivone Leong (Genomics England Curator)
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)
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
-
- Structural basal ganglia disorders
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
- Multi-organ autoimmune diabetes
- Adult onset dystonia, chorea or related movement disorder
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
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