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| Clefting v3.2 | MYCN |
Achchuthan Shanmugasundram gene: MYCN was added gene: MYCN was added to Clefting. Sources: Literature Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYCN were set to 34590686 Phenotypes for gene: MYCN were set to Cleft lip with or without cleft palate, MONDO:0016034 Review for gene: MYCN was set to RED Added comment: Comment on classification of this gene: This gene has been added with a RED rating to this panel, as identified from one case and supported by functional studies with mouse model. Out of the 104 multiplex families with Mendelian non-syndromic cleft lip with or without cleft palate (NSCL/P), a novel pathogenic variant (c.703G>C/ p.A235P) has been identified in MYCN gene from one family. This variant was found in the proband and his affected mother and absent in the unaffected sister, showing co-segregation with phenotype in this family. In addition, experimental evidence from conditional knockout mouse model showed that these mice displayed cleft palate, microglossia and micrognathia, resembling the Pierre Robin sequence (PRS) in humans. This gene has not yet been associated with clefting either in OMIM or in Gene2Phenotype. Sources: Literature |
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