Activity
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| Cerebral vascular malformations v3.28 | FOXM1 | Achchuthan Shanmugasundram Classified gene: FOXM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.28 | FOXM1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexandra Njegic, 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. |
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| Cerebral vascular malformations v3.28 | FOXM1 | Achchuthan Shanmugasundram Gene: foxm1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.27 | FOXM1 | Achchuthan Shanmugasundram Phenotypes for gene: FOXM1 were changed from Moyamoya Disease (Unilateral) to Moyamoya disease, MONDO:0016820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.26 | FOXM1 | Achchuthan Shanmugasundram edited their review of gene: FOXM1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.26 | FOXM1 | Achchuthan Shanmugasundram reviewed gene: FOXM1: Rating: AMBER; Mode of pathogenicity: None; Publications: 38969938; Phenotypes: Moyamoya disease, MONDO:0016820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.18 | FOXM1 |
Alexandra Njegic gene: FOXM1 was added gene: FOXM1 was added to Cerebral vascular malformations. 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 (Unilateral) Penetrance for gene: FOXM1 were set to unknown Review for gene: FOXM1 was set to AMBER Added comment: 38969938: 1 family, affected father and daughter. In vitro studies with hCMEC/D3 cells overexpressing the variant showed reduced migration and tube formation and increased apoptosis proposed to be due to reduced BCL2 transcription. Sources: Literature |
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