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Van der Woude syndrome

Gene: IRF6

Green List (high evidence)
IRF6 (interferon regulatory factor 6)
EnsemblGeneIds (GRCh38): ENSG00000117595
EnsemblGeneIds (GRCh37): ENSG00000117595
OMIM: 607199, Gene2Phenotype
IRF6 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with MIM #119300 ion OMIM and the OMIM record was last accessed on 29 December 2025.
Created: 29 Dec 2025, 1:48 p.m. | Last Modified: 29 Dec 2025, 1:48 p.m.
Panel Version: 1.2
IRF6 has been added to the panel for R284 Van der Woude syndrome with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 5:02 p.m. | Last Modified: 30 Jun 2023, 5:02 p.m.
Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 30 Jun 2023, 5:02 p.m.
Last Modified: 30 Jun 2023, 5:02 p.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • van der Woude syndrome 1, OMIM:119300
  • van der Woude syndrome 1, MONDO:0007333
OMIM
607199
Clinvar variants
Variants in IRF6
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: IRF6 were changed from to van der Woude syndrome 1, OMIM:119300; van der Woude syndrome 1, MONDO:0007333

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: IRF6 was added gene: IRF6 was added to Van der Woude syndrome. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown