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| Mendeliome v2.487 | 10q24 duplication syndrome Split hand foot malformation 3 | Sarah Milton Classified Region: 10q24 duplication syndrome Split hand foot malformation 3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.487 | 10q24 duplication syndrome Split hand foot malformation 3 | Sarah Milton Region: 10q24 duplication syndrome split hand foot malformation 3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.486 | 10q24 duplication syndrome Split hand foot malformation 3 | Sarah Milton Marked Region: 10q24 duplication syndrome Split hand foot malformation 3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.486 | 10q24 duplication syndrome Split hand foot malformation 3 | Sarah Milton Region: 10q24 duplication syndrome split hand foot malformation 3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.486 | 10q24 duplication syndrome Split hand foot malformation 3 |
Sarah Milton Region: 10q24 duplication syndrome Split hand foot malformation 3 was added Region: 10q24 duplication syndrome Split hand foot malformation 3 was added to Mendeliome. Sources: Literature Mode of inheritance for Region: 10q24 duplication syndrome Split hand foot malformation 3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: 10q24 duplication syndrome Split hand foot malformation 3 were set to 30622331; 27600068; 38168117; 35908152; 23596994 Phenotypes for Region: 10q24 duplication syndrome Split hand foot malformation 3 were set to Split-hand/foot malformation 3, gene duplication syndrome, MIM#246560 Penetrance for Region: 10q24 duplication syndrome Split hand foot malformation 3 were set to Incomplete Review for Region: 10q24 duplication syndrome Split hand foot malformation 3 was set to GREEN Added comment: Tandem genomic duplications at chromosome 10q24 have been reported in at least 50 affected individuals from over 30 families with split hand foot malformation. Duplications encompassed protein coding genes FBXW4, BTRC and ranged in size from 120kb to 597kb. Interestingly very large duplications did not seem to recapitulate the phenotype. The critical gene/molecular mechanism remains unclear. Expression analysis showed BTRC and SUFU were overexpressed in patient cells and as such a beta catenin signalling pathway defect was proposed. Regulatory element disruption and positional effect was also noted as a possibility given all causative CNV’s were duplications. Some reduced penetrance noted. Sources: Literature |
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