Differences of Sex Development

Gene: IRF6

Green List (high evidence)

IRF6 (interferon regulatory factor 6)
EnsemblGeneIds (GRCh38): ENSG00000117595
EnsemblGeneIds (GRCh37): ENSG00000117595
OMIM: 607199, Gene2Phenotype
IRF6 is in 8 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end.
Established gene-disease association.

Popliteal pterygium syndrome (PPS) features including orofacial anomalies such as lower lip pits, cleft lip and/or palate, and syngnathia, and skin and genital abnormalities including webbing of the lower limbs, syndactyly, hypoplasia of the labia majora/vagina/uterus, cryptorchidism, and bifid or hypoplastic scrotum.
Sources: Literature
Created: 5 Dec 2024, 4:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Popliteal pterygium syndrome 1, OMIM #119500

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Popliteal pterygium syndrome 1, OMIM #119500
OMIM
607199
Clinvar variants
Variants in IRF6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: irf6 has been classified as Green List (High Evidence).

5 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: irf6 has been classified as Green List (High Evidence).

5 Dec 2024, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: IRF6 was added gene: IRF6 was added to Differences of Sex Development. Sources: Literature Mode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IRF6 were set to PMID: 20301581 Phenotypes for gene: IRF6 were set to Popliteal pterygium syndrome 1, OMIM #119500 Review for gene: IRF6 was set to GREEN