Multi-organ autoimmune diabetes

Gene: PAX4

No list

PAX4 (paired box 4)
EnsemblGeneIds (GRCh38): ENSG00000106331
EnsemblGeneIds (GRCh37): ENSG00000106331
OMIM: 167413, Gene2Phenotype
PAX4 is in 4 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Removed due to expert review.
Created: 22 Jul 2016, 3:05 p.m.

Sian Ellard (University of Exeter Medical School)

Remove gene from panel
Created: 8 Dec 2015, 2:32 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Maturity-onset diabetes of the young, type IX, 612225
  • Diabetes mellitus, type 2, 125853
  • Diabetes mellitus, ketosis-prone, 612227
  • Maturity Onset Diabetes of the Young
Tags
curated_removed
OMIM
167413
Clinvar variants
Variants in PAX4
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: PAX4.

25 Jul 2016, Gel status: 0

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.

22 Jul 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

22 Jul 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

17 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PAX4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PAX4 was added to Multi-organ autoimmune diabetespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

17 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PAX4 was added to Multi-organ autoimmune diabetespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services