Differences of Sex Development
Gene: IRF6
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: LiteratureCreated: 5 Dec 2024, 4:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Popliteal pterygium syndrome 1, OMIM #119500
Publications
Gene: irf6 has been classified as Green List (High Evidence).
Gene: irf6 has been classified as Green List (High Evidence).
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