IRF6 Chromosome 1
Interferon regulatory factor 6
Upload your DNA to see your personal genotypes for variants in IRF6.
What This Gene Does
This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011]
Gene Info
Gene Group
Interferon regulatory factors
Locus Type
gene with protein product
Location
1q32.2
Ensembl
ENSG00000117595
Associated Conditions (9)
Popliteal pterygium syndrome
Orofacial cleft 6
susceptibility to
Van der Woude syndrome
Van der Woude syndrome 1
Autosomal dominant popliteal pterygium syndrome
IRF6-related condition
Inborn genetic diseases
Cleft palate
Key Variants
RS1064793154
Conflicting classifications of pathogenicity
Popliteal pterygium syndrome, Orofacial cleft 6, susceptibility to
Health Risk
RS115777201
Conflicting classifications of pathogenicity
Van der Woude syndrome, Popliteal pterygium syndrome, Orofacial cleft 6
Health Risk
RS121434229
Conflicting classifications of pathogenicity
Van der Woude syndrome 1, Van der Woude syndrome, Popliteal pterygium syndrome
Health Risk
RS1553248640
Conflicting classifications of pathogenicity
Orofacial cleft 6, susceptibility to, Van der Woude syndrome
Health Risk
RS2102536882
Conflicting classifications of pathogenicity
Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome
Health Risk
RS748882482
Conflicting classifications of pathogenicity
Orofacial cleft 6, susceptibility to, Van der Woude syndrome 1
Health Risk
RS750815592
Conflicting classifications of pathogenicity
Popliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6
Health Risk
RS1057517975
Likely pathogenic
Health Risk
RS1057521133
Likely pathogenic
Health Risk
RS1057523749
Likely pathogenic
Health Risk
RS1064793155
Likely pathogenic
Health Risk
RS121434225
Likely pathogenic
Popliteal pterygium syndrome, Popliteal pterygium syndrome
Health Risk
All Variants (100)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1571983440 | Health Risk | Pathogenic | Popliteal pterygium syndrome, Orofacial cleft 6, susceptibility to |
| RS200166664 | Health Risk | Pathogenic | Van der Woude syndrome 1, Van der Woude syndrome 1 |
| RS201940391 | Health Risk | Pathogenic | — |
| RS2077857559 | Health Risk | Pathogenic | Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome |
| RS2077857607 | Health Risk | Pathogenic | — |
| RS2077863259 | Health Risk | Pathogenic | Popliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6 |
| RS2077864704 | Health Risk | Pathogenic | Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome |
| RS2077873846 | Health Risk | Pathogenic | Van der Woude syndrome, Popliteal pterygium syndrome, Orofacial cleft 6 |
| RS2077874511 | Health Risk | Pathogenic | Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome |
| RS2077901146 | Health Risk | Pathogenic | Van der Woude syndrome 1, Van der Woude syndrome 1 |
| RS2077902411 | Health Risk | Pathogenic | Popliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6 |
| RS2077902428 | Health Risk | Pathogenic | Popliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6 |
| RS2077939646 | Health Risk | Pathogenic | Van der Woude syndrome 1, Van der Woude syndrome 1 |
| RS2077940243 | Health Risk | Pathogenic | Orofacial cleft 6, susceptibility to, Van der Woude syndrome |
| RS2102536764 | Health Risk | Pathogenic | Popliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6 |
| RS2102536939 | Health Risk | Pathogenic | Orofacial cleft 6, susceptibility to, Van der Woude syndrome |
| RS2102538567 | Health Risk | Pathogenic | Orofacial cleft 6, susceptibility to, Van der Woude syndrome |
| RS2102541666 | Health Risk | Pathogenic | Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome |
| RS2102542809 | Health Risk | Pathogenic | Orofacial cleft 6, susceptibility to, Van der Woude syndrome |
| RS2102542868 | Health Risk | Pathogenic | Orofacial cleft 6, susceptibility to, Van der Woude syndrome |
| RS2464667395 | Health Risk | Pathogenic | Popliteal pterygium syndrome, Orofacial cleft 6, susceptibility to |
| RS2464667462 | Health Risk | Pathogenic | Van der Woude syndrome, Popliteal pterygium syndrome, Orofacial cleft 6 |
| RS2464669962 | Health Risk | Pathogenic | IRF6-related condition, IRF6-related condition |
| RS2464680974 | Health Risk | Pathogenic | Van der Woude syndrome, Popliteal pterygium syndrome, Orofacial cleft 6 |
| RS2464683525 | Health Risk | Pathogenic | Van der Woude syndrome 1, Van der Woude syndrome 1 |
| RS2464683620 | Health Risk | Pathogenic | Van der Woude syndrome, Popliteal pterygium syndrome, Orofacial cleft 6 |
| RS2464683705 | Health Risk | Pathogenic | Van der Woude syndrome, Popliteal pterygium syndrome, Orofacial cleft 6 |
| RS2464694698 | Health Risk | Pathogenic | Van der Woude syndrome, Popliteal pterygium syndrome, Orofacial cleft 6 |
| RS2464694798 | Health Risk | Pathogenic | Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome |
| RS28942093 | Health Risk | Pathogenic | Van der Woude syndrome 1, Van der Woude syndrome 1 |
| RS28942095 | Health Risk | Pathogenic | Van der Woude syndrome 1, Van der Woude syndrome, Popliteal pterygium syndrome |
| RS387906967 | Health Risk | Pathogenic | Van der Woude syndrome 1, Popliteal pterygium syndrome, Van der Woude syndrome 1 |
| RS397515434 | Health Risk | Pathogenic | Van der Woude syndrome 1, Van der Woude syndrome, Popliteal pterygium syndrome |
| RS587776569 | Health Risk | Pathogenic | Van der Woude syndrome 1, Van der Woude syndrome 1 |
| RS886038202 | Health Risk | Pathogenic | Popliteal pterygium syndrome, Popliteal pterygium syndrome |
| RS886039388 | Health Risk | Pathogenic | Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome |
| RS886039389 | Health Risk | Pathogenic | — |
| RS886039390 | Health Risk | Pathogenic | — |
| RS886039570 | Health Risk | Pathogenic | — |
| RS886041484 | Health Risk | Pathogenic | — |
| RS980247902 | Health Risk | Pathogenic | Van der Woude syndrome, Popliteal pterygium syndrome, Orofacial cleft 6 |
| RS1057520738 | Health Risk | Pathogenic/Likely pathogenic | Popliteal pterygium syndrome, Orofacial cleft 6, susceptibility to |
| RS121434226 | Health Risk | Pathogenic/Likely pathogenic | Popliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6 |
| RS1553247774 | Health Risk | Pathogenic/Likely pathogenic | Popliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6 |
| RS1553248641 | Health Risk | Pathogenic/Likely pathogenic | Van der Woude syndrome 1, Orofacial cleft 6, susceptibility to |
| RS1571986293 | Health Risk | Pathogenic/Likely pathogenic | Orofacial cleft 6, susceptibility to, Van der Woude syndrome |
| RS28942094 | Health Risk | Pathogenic/Likely pathogenic | Van der Woude syndrome 1, Cleft palate, Popliteal pterygium syndrome |
| RS769068305 | Health Risk | Pathogenic/Likely pathogenic | Van der Woude syndrome 1, Popliteal pterygium syndrome, Van der Woude syndrome |
| RS781506407 | Health Risk | Pathogenic/Likely pathogenic | Popliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6 |
| RS886039391 | Health Risk | Pathogenic/Likely pathogenic | Orofacial cleft 6, susceptibility to, Van der Woude syndrome 1 |