Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: FOXO1

FOXO1 (forkhead box O1)
EnsemblGeneIds (GRCh38): ENSG00000150907
EnsemblGeneIds (GRCh37): ENSG00000150907
OMIM: 136533, Gene2Phenotype
FOXO1 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

PMID:35997807 reported a cohort of patients with lambdoid synostosis, where a de novo variant (p.Arg180Trp) was identified in FOXO1. Hence, this gene should be added with a red rating.
Sources: Literature
Created: 21 Jul 2023, 8:50 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 21 Jul 2023, 8:50 p.m.

Panel version: 4.126

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

136533

Clinvar variants

Variants in FOXO1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

21 Jul 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FOXO1 was added gene: FOXO1 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: FOXO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXO1 were set to 35997807; 36980886 Phenotypes for gene: FOXO1 were set to craniosynostosis, MONDO:0015469 Review for gene: FOXO1 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: FOXO1