| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Clefting disorders v0.189 | RIC1 | Zornitza Stark Marked gene: RIC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.189 | RIC1 | Zornitza Stark Gene: ric1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.189 | RIC1 | Zornitza Stark Classified gene: RIC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.189 | RIC1 | Zornitza Stark Gene: ric1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.188 | RIC1 |
Paul De Fazio gene: RIC1 was added gene: RIC1 was added to Clefting disorders. Sources: Literature Mode of inheritance for gene: RIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RIC1 were set to 36493769 Phenotypes for gene: RIC1 were set to Cleft lip/palate MONDO:0016044, RIC1-related Review for gene: RIC1 was set to GREEN gene: RIC1 was marked as current diagnostic Added comment: PMID:36493769 identified an intragenic deletion by high-res microarray of exons 1-2 in 3 individuals with non-syndromic cleft lip/palate. This deleton is not present in gnomAD. Inheritance information was available in 2 individuals; one was de novo, the other inherited from an affected mother. Note that the gene is not LOF constrained in gnomAD. Knockdown and knockout of the gene in Xenopus and Zebrafish resulted in craniofacial malformations in a large proportion (but not 100%) of embryos. Sources: Literature |
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