Familial diabetes
Gene: PAX4
PAX4 (paired box 4)
EnsemblGeneIds (GRCh38): ENSG00000106331
EnsemblGeneIds (GRCh37): ENSG00000106331
OMIM: 167413, Gene2Phenotype
PAX4 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000106331
EnsemblGeneIds (GRCh37): ENSG00000106331
OMIM: 167413, Gene2Phenotype
PAX4 is in 5 panels
3 reviews
Ivone Leong (Genomics England Curator)
Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.Created: 25 Jan 2019, 11:49 a.m.
Sian Ellard (University of Exeter Medical School)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Demoted to red due to expert review. Two families reported in OMIM, therefore not enough evidence at this time.Created: 7 Jun 2016, 9:35 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Maturity Onset Diabetes of the Young
- Maturity-onset diabetes of the young, type IX, 612225
- OMIM
- 167413
- Clinvar variants
- Variants in PAX4
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
11 Feb 2021, Gel status: 1
Clear Sources
Eleanor Williams (Genomics England Curator)Source: Expert Review Removed was removed from gene: PAX4
7 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
7 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
28 Apr 2015, Gel status: 2
Added New Source
GEL ()PAX4 was added to Familial diabetespanel. Sources: Radboud University Medical Center, Nijmegen
28 Apr 2015, Gel status: 1
Added New Source
GEL ()PAX4 was added to Familial diabetespanel. Sources: Illumina TruGenome Clinical Sequencing Services