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| Mendeliome v2.494 | 8q13 deletion Mesomelia-Synostoses Syndrome | Sarah Milton Marked Region: 8q13 deletion Mesomelia-Synostoses Syndrome as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.494 | 8q13 deletion Mesomelia-Synostoses Syndrome | Sarah Milton Region: 8q13 deletion mesomelia-synostoses syndrome has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.494 | 8q13 deletion Mesomelia-Synostoses Syndrome | Sarah Milton Classified Region: 8q13 deletion Mesomelia-Synostoses Syndrome as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.494 | 8q13 deletion Mesomelia-Synostoses Syndrome | Sarah Milton Region: 8q13 deletion mesomelia-synostoses syndrome has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.493 | 8q13 deletion Mesomelia-Synostoses Syndrome |
Sarah Milton Region: 8q13 deletion Mesomelia-Synostoses Syndrome was added Region: 8q13 deletion Mesomelia-Synostoses Syndrome was added to Mendeliome. Sources: Literature regulatory region tags were added to Region: 8q13 deletion Mesomelia-Synostoses Syndrome. Mode of inheritance for Region: 8q13 deletion Mesomelia-Synostoses Syndrome was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: 8q13 deletion Mesomelia-Synostoses Syndrome were set to 20602915; 38992676; 30450550; 28328141 Phenotypes for Region: 8q13 deletion Mesomelia-Synostoses Syndrome were set to Mesomelia-synostoses syndrome, MIM#600383 Review for Region: 8q13 deletion Mesomelia-Synostoses Syndrome was set to GREEN Added comment: Heterozygous deletions involving SULF1 and SLCO5A1 have been reported in 6 affected individuals from 5 unrelated families with Mesomelia-synostoses syndrome. Clinical presentation included: Mesomelic limb shortening, acral synostosis, multiple congenital malformations Deletions ranged from 582-738kb in size with as of yet an unclear mechanism of disease. Both SULF1 and SLCO5A1 are expressed in skeletal tissues however neither gene is constrained for loss of function in population databases. Functional studies in mice with homozygous knockout revealed milder defects with reduced bone length, early ossification vertebrae, fusion vertebrae. The 2 genes are in separate TADs with predicted chondrogenic enhancers in the deleted region as such alteration a regulatory effect is suspected. Note: minimum coordinates used for this entry Sources: Literature |
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