Cerebral vascular malformations
Gene: FOXM1EnsemblGeneIds (GRCh38): ENSG00000111206
EnsemblGeneIds (GRCh37): ENSG00000111206
OMIM: 602341, Gene2Phenotype
FOXM1 is in 3 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
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.Created: 22 Apr 2025, 6:12 p.m. | Last Modified: 22 Apr 2025, 6:12 p.m.
Panel Version: 3.28
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Moyamoya disease, MONDO:0016820
Publications
Alexandra Njegic (Leeds Teaching Hospital Trust)
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: LiteratureCreated: 8 Apr 2025, 11:16 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Moyamoya Disease (Unilateral)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Moyamoya disease, MONDO:0016820
- OMIM
- 602341
- Clinvar variants
- Variants in FOXM1
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: foxm1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: FOXM1 were changed from Moyamoya Disease (Unilateral) to Moyamoya disease, MONDO:0016820
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexandra Njegic (Leeds Teaching Hospital Trust)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