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| 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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| Frontonasal dysplasia v0.18 | SPECC1L | Zornitza Stark Marked gene: SPECC1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frontonasal dysplasia v0.18 | SPECC1L | Zornitza Stark Gene: specc1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frontonasal dysplasia v0.18 | SPECC1L | Zornitza Stark Phenotypes for gene: SPECC1L were changed from to Opitz GBBB syndrome, type II, MIM# 145410; Hypertelorism, Teebi type, MIM# 145420 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frontonasal dysplasia v0.17 | SPECC1L | Zornitza Stark Mode of inheritance for gene: SPECC1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frontonasal dysplasia v0.16 | SPECC1L | Zornitza Stark reviewed gene: SPECC1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Opitz GBBB syndrome, type II, MIM# 145410, Hypertelorism, Teebi type, MIM# 145420; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frontonasal dysplasia v0.0 | SPECC1L |
Zornitza Stark gene: SPECC1L was added gene: SPECC1L was added to Frontonasal dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SPECC1L was set to Unknown |
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