Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: FTO

FTO (FTO, alpha-ketoglutarate dependent dioxygenase)
EnsemblGeneIds (GRCh38): ENSG00000140718
EnsemblGeneIds (GRCh37): ENSG00000140718
OMIM: 610966, Gene2Phenotype
FTO is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A homozygous variant in FTO (c.956G>A; p.Arg322Gln) was described in one individual with multiple malformation syndrome, which included craniosynostosis. Craniosynostosis is not a consistent feature of variants in FTO (PMID:26697951).
Sources: Literature
Created: 21 Jul 2023, 9 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 21 Jul 2023, 9 p.m.

Panel version: 4.127

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

610966

Clinvar variants

Variants in FTO

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: FTO was added gene: FTO was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FTO were set to 26697951; 36980886 Phenotypes for gene: FTO were set to craniosynostosis, MONDO:0015469 Review for gene: FTO was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: FTO