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Differences of Sex Development v0.370 IRF6 Zornitza Stark Marked gene: IRF6 as ready
Differences of Sex Development v0.370 IRF6 Zornitza Stark Gene: irf6 has been classified as Green List (High Evidence).
Differences of Sex Development v0.318 IRF6 Chirag Patel Classified gene: IRF6 as Green List (high evidence)
Differences of Sex Development v0.318 IRF6 Chirag Patel Gene: irf6 has been classified as Green List (High Evidence).
Differences of Sex Development v0.317 IRF6 Chirag Patel 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
Added comment: 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