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| Skeletal dysplasia v1.119 | Sarah Milton Copied Region MSX2 upstream regulatory region from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.119 | MSX2 upstream regulatory region |
Sarah Milton Region: MSX2 upstream regulatory region was added Region: MSX2 upstream regulatory region was added to Skeletal dysplasia. Sources: Expert Review Amber,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 |
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| Skeletal dysplasia v1.0 | MSX2 | Gene migrated from ENSG00000120149 to ENSG00000120149 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | MSX2 |
Zornitza Stark gene: MSX2 was added gene: MSX2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MSX2 were set to Parietal foramina 1 168500; Parietal foramina with cleidocranial dysplasia 168550; Craniosynostosis, type 2 604757 |
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