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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 |
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