Multi-organ autoimmune diabetes
Gene: PDX1EnsemblGeneIds (GRCh38): ENSG00000139515
EnsemblGeneIds (GRCh37): ENSG00000139515
OMIM: 600733, Gene2Phenotype
PDX1 is in 8 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Removed due to expert review.Created: 22 Jul 2016, 3:03 p.m.
Sian Ellard (University of Exeter Medical School)
Remove gene from panelCreated: 8 Dec 2015, 2:32 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- MODY type IV
- Maturity Onset Diabetes of the Young (MODY)
- Neonatal Diabetes
- Maturity-Onset Diabetes Of The Young
- Monogenic Diabetes
- Tags
- OMIM
- 600733
- Clinvar variants
- Variants in PDX1
- Penetrance
- Complete
- Panels with this gene
-
- Structural basal ganglia disorders
- Neonatal diabetes
- Monogenic diabetes
- Multi-organ autoimmune diabetes
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- Familial diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: PDX1.
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
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 Multi-organ autoimmune diabetespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
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 Multi-organ autoimmune diabetespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)PDX1 was added to Multi-organ autoimmune diabetespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN