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  2. Rare syndromic craniosynostosis or isolated multisuture synostosis
  3. FOXP1
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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: FOXP1

Red List (low evidence)
FOXP1 (forkhead box P1)
EnsemblGeneIds (GRCh38): ENSG00000114861
EnsemblGeneIds (GRCh37): ENSG00000114861
OMIM: 605515, Gene2Phenotype
FOXP1 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

Whole exome sequencing identified a de novo splicing variant in FOXP1 (c.1428+1 G>A; p.Ala450GLyfs*13) in a patient with syndromic intellectual disability and trigonocephaly (PMID:29330474).
Sources: Literature
Created: 21 Jul 2023, 9:38 a.m.

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

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 21 Jul 2023, 9:38 a.m.

Panel version: 4.124

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469
OMIM
605515
Clinvar variants
Variants in FOXP1
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: FOXP1 was added gene: FOXP1 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXP1 were set to 29330474; 36980886 Phenotypes for gene: FOXP1 were set to craniosynostosis, MONDO:0015469 Review for gene: FOXP1 was set to RED