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| Frontonasal dysplasia v1.2 | CDH11 | Zornitza Stark Marked gene: CDH11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frontonasal dysplasia v1.2 | CDH11 | Zornitza Stark Gene: cdh11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frontonasal dysplasia v1.2 | CDH11 | Zornitza Stark Classified gene: CDH11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frontonasal dysplasia v1.2 | CDH11 | Zornitza Stark Gene: cdh11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frontonasal dysplasia v1.1 | CDH11 |
Sangavi Sivagnanasundram gene: CDH11 was added gene: CDH11 was added to Frontonasal dysplasia. Sources: Expert Review Mode of inheritance for gene: CDH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDH11 were set to 33811546 Phenotypes for gene: CDH11 were set to Teebi hypertelorism syndrome, MONDO:0030639 Review for gene: CDH11 was set to GREEN Added comment: Affected individuals present with craniofacial features. Review from Mendeliome - Li et al (2021) report 19 subjects from 9 families with Teebi hypertelorism syndrome (hypertelorism, prominent forehead, short nose, broad/depressed nasal root, cardiac and umbilical defects). Patients had heterozygous missense variants affected residues in the extracellular region of CDH11. Immunohistochemical study demonstrates that CDH11 is strongly expressed in human facial mesenchyme. Using multiple functional assays, they showed 5 variants significantly reduced the cell-substrate trans adhesion activity and changed cell morphology, focal adhesion, and migration, suggesting dominant negative effect. Some clinical features distinguished this phenotype from that seen in SPECC1L-related hypertelorism syndrome and CDH11-related EWS. 37% of Teebi cohort had ID. All variants were missense. Sources: Expert Review |
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