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| Mendeliome v1.2479 | FOXM1 |
Achchuthan Shanmugasundram gene: FOXM1 was added gene: FOXM1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: FOXM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXM1 were set to 38969938 Phenotypes for gene: FOXM1 were set to Moyamoya disease, MONDO:0016820 Review for gene: FOXM1 was set to AMBER Added comment: PMID:38969938 reported a 60-year-old father and 31-year-old daughter with unilateral Moyamoya Disease and with c.1205 C > A variant in FOXM1 gene (p.(Ala402Glu). There is also functional evidence available for the identified variant from the publication. This gene should be rated amber with current evidence. Sources: Literature |
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