Monogenic diabetes

Gene: PAX4

No list

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

3 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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)

Red List (low evidence)

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 Removed
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
OMIM
167413
Clinvar variants
Variants in PAX4
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 0

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Gene changed to grey status af

25 Jan 2019, Gel status: 0

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Removed was added to PAX4. Rating Changed from Red List (low evidence) to No List (delete)

18 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Maturity-onset diabetes of the young, type IX, 612225; Diabetes mellitus, ketosis-prone, 612227; Diabetes mellitus, type 2, 125853; Maturity Onset Diabetes of the Young for gene: PAX4

18 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PAX4 was added gene: PAX4 was added to Monogenic diabetes. Sources: Expert Review Red Mode of inheritance for gene: PAX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX4 were set to Maturity-onset diabetes of the young, type IX, 612225; Maturity Onset Diabetes of the Young