Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: FOXP2

FOXP2 (forkhead box P2)
EnsemblGeneIds (GRCh38): ENSG00000128573
EnsemblGeneIds (GRCh37): ENSG00000128573
OMIM: 605317, Gene2Phenotype
FOXP2 is in 8 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A familial variant in FOXP2 (c.484del; p.Gln162fs) was identified in individuals with developmental delay, hypermetropia, orofacial dyspraxia and sagittal craniosynostosis. The variant is absent from gnomAD (PMID:35080095)
Sources: Literature
Created: 21 Jul 2023, 8:37 p.m.

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

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 21 Jul 2023, 8:37 p.m.

Panel version: 4.125

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

605317

Clinvar variants

Variants in FOXP2

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: FOXP2 was added gene: FOXP2 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXP2 were set to 35080095; 36980886 Phenotypes for gene: FOXP2 were set to craniosynostosis, MONDO:0015469 Review for gene: FOXP2 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: FOXP2