| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Clefting disorders v1.99 | CDH3 | Zornitza Stark Marked gene: CDH3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v1.99 | CDH3 | Zornitza Stark Gene: cdh3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v1.99 | CDH3 |
Zornitza Stark gene: CDH3 was added gene: CDH3 was added to Clefting disorders. Sources: Literature Mode of inheritance for gene: CDH3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CDH3 were set to 41231213 Phenotypes for gene: CDH3 were set to Orofacial cleft, MONDO:0000358, CHD3-related Review for gene: CDH3 was set to RED Added comment: PMID 41231213 presents extensive animal model data identifying genes contributing to CL/P. As part of this, 21 individuals reported with rare variants, including biallelic LoF variants in CHD3. However, minimal data provided on ascertainment, segregation, variant classification etc and uncertain whether these fit under a proposed monogenic or polygenic model. Sources: Literature |
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