Pigmentary skin disorders

Gene: IRF4

Red List (low evidence)

IRF4 (interferon regulatory factor 4)
EnsemblGeneIds (GRCh38): ENSG00000137265
EnsemblGeneIds (GRCh37): ENSG00000137265
OMIM: 601900, Gene2Phenotype
IRF4 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: IRF4; Suggested initial gene rating: Red; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.


  • London North GLH
  • Expert Review Red
  • Pigmentation,susceptibility to facial pigmented spots
Clinvar variants
Variants in IRF4
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to IRF4.

31 Jan 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: IRF4 was added gene: IRF4 was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: IRF4 was set to Phenotypes for gene: IRF4 were set to Pigmentation,susceptibility to facial pigmented spots