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| Mendeliome v2.0 | POU3F4 upstream regulatory region | Region POU3F4 upstream regulatory region migrated (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4863 | POU3F4 upstream regulatory region | Sarah Milton Classified Region: POU3F4 upstream regulatory region as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4863 | POU3F4 upstream regulatory region | Sarah Milton Added comment: Comment on list classification: Well established with specific temporal bone findings | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4863 | POU3F4 upstream regulatory region | Sarah Milton Region: pou3f4 upstream regulatory region has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4863 | POU3F4 upstream regulatory region | Sarah Milton Classified Region: POU3F4 upstream regulatory region as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4863 | POU3F4 upstream regulatory region | Sarah Milton Added comment: Comment on list classification: Well established with specific temporal bone findings | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4863 | POU3F4 upstream regulatory region | Sarah Milton Region: pou3f4 upstream regulatory region has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4862 | POU3F4 upstream regulatory region |
Sarah Milton changed review comment from: POU3F4 encodes POU domain, class III, transcriptional factor 4, a transcription factor with functional targets not fully elucidated but known to affect expression of GJB6, EPHA4 and EFNB2 in development. 17 patients reported across a number of publications with deletions sized between 8kb to 1.74mb upstream of POU3F4 presented with X linked deafness. Yang et al PMID: 41170199 reported 4 male individuals from one pedigree with deafness segregating with the upstream deletion. qPCR demonstrated reduced mRNA expression of POU3F4 in two affected males with the deletion with normal levels in their unaffected father. It is proposed this deletion is removing an upstream enhancer element however functional studies have not been performed to demonstrate this as of yet. The coordinates used in this entry are the largest reported to cause the phenotype most deletions reported in affected individuals were smaller. Sources: Literature; to: POU3F4 encodes POU domain, class III, transcriptional factor 4, a transcription factor with functional targets not fully elucidated but known to affect expression of GJB6, EPHA4 and EFNB2 in development. 17 patients reported across a number of publications with deletions sized between 8kb to 1.74mb upstream of POU3F4 presented with X linked deafness - mixed conductive and sensorineural. A typical temporal bone deformity is often seen that includes dilatation of the inner auditory canal and a fistulous connection between the internal auditory canal and the cochlear basal turn. Yang et al PMID: 41170199 reported 4 male individuals from one pedigree with deafness segregating with the upstream deletion. qPCR demonstrated reduced mRNA expression of POU3F4 in two affected males with the deletion with normal levels in their unaffected father. It is proposed this deletion is removing an upstream enhancer element however this has not been clearly demonstrated yet. The coordinates used in this entry are the largest reported to cause the phenotype most deletions reported in affected individuals were smaller. Sources: Literature |
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| Mendeliome v1.4731 | POU3F4 upstream regulatory region | Sarah Milton Tag regulatory region was added to Region: POU3F4 upstream regulatory region. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4586 | POU3F4 upstream regulatory region |
Sarah Milton Region: POU3F4 upstream regulatory region was added Region: POU3F4 upstream regulatory region was added to Mendeliome. Sources: Literature Mode of inheritance for Region: POU3F4 upstream regulatory region was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for Region: POU3F4 upstream regulatory region were set to PMID: 41170199, 35189936, 33860785 Phenotypes for Region: POU3F4 upstream regulatory region were set to Deafness, X-linked 2 MIM#304400 Review for Region: POU3F4 upstream regulatory region was set to AMBER Added comment: POU3F4 encodes POU domain, class III, transcriptional factor 4, a transcription factor with functional targets not fully elucidated but known to affect expression of GJB6, EPHA4 and EFNB2 in development. 17 patients reported across a number of publications with deletions sized between 8kb to 1.74mb upstream of POU3F4 presented with X linked deafness. Yang et al PMID: 41170199 reported 4 male individuals from one pedigree with deafness segregating with the upstream deletion. qPCR demonstrated reduced mRNA expression of POU3F4 in two affected males with the deletion with normal levels in their unaffected father. It is proposed this deletion is removing an upstream enhancer element however functional studies have not been performed to demonstrate this as of yet. The coordinates used in this entry are the largest reported to cause the phenotype most deletions reported in affected individuals were smaller. Sources: Literature |
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