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| Mendeliome v2.496 | MSX2 upstream regulatory region | Sarah Milton Marked Region: MSX2 upstream regulatory region as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.496 | MSX2 upstream regulatory region | Sarah Milton Region: msx2 upstream regulatory region has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.496 | MSX2 upstream regulatory region | Sarah Milton Classified Region: MSX2 upstream regulatory region as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.496 | MSX2 upstream regulatory region | Sarah Milton Region: msx2 upstream regulatory region has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.495 | MSX2 upstream regulatory region |
Sarah Milton Region: MSX2 upstream regulatory region was added Region: MSX2 upstream regulatory region was added to Mendeliome. Sources: Literature regulatory region tags were added to Region: MSX2 upstream regulatory region. Mode of inheritance for Region: MSX2 upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: MSX2 upstream regulatory region were set to 22717651; 42609732 Phenotypes for Region: MSX2 upstream regulatory region were set to Parietal foramina 1 MIM#168500; Parietal foramina with cleidocranial dysplasia MIM#168550 Review for Region: MSX2 upstream regulatory region was set to AMBER Added comment: MSX2 encodes a homeobox transcription factor that is known to have a role in osteogenic growth. Sequence variants in MSX2 result in Craniosynostosis 2, MIM#604757, Parietal foramina 1 MIM#168500. PMID: 22717651 summarises 2 unrelated individuals with duplications approx 10-70kb upstream of MSX2 presenting with cleidocranial dysplasia. Mechanism of disease postulated to be overexpression of MSX2, authors report enhancers were underlying some of the duplicated region. PMID: 42609732 summarised 3 individuals from 2 unrelated families with parietal foramina with microduplications upstream of MSX2. Mechanism remains somewhat undefined with rare reports. Note: minimum duplicated region has been used for this entry Sources: Literature |
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