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  2. Rare syndromic craniosynostosis or isolated multisuture synostosis
  3. FGF10
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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: FGF10

Amber List (moderate evidence)
FGF10 (fibroblast growth factor 10)
EnsemblGeneIds (GRCh38): ENSG00000070193
EnsemblGeneIds (GRCh37): ENSG00000070193
OMIM: 602115, Gene2Phenotype
FGF10 is in 9 panels

2 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Promoting from grey to amber. 2 cases reported.
Created: 22 Jul 2021, 3:05 p.m. | Last Modified: 22 Jul 2021, 3:05 p.m.
Panel Version: 2.33
As expert reviewer reports PMID: 29215649 (Lee et al 2018) conducted a study in which 233 individuals with craniosynostosis where screened with a 20-gene panel which was designed based on the genes' association with craniosynostosis. Heterozygous variants (1 frameshift, 1 nonsense) in FGF10 were identified in 2 patients.
Created: 22 Jul 2021, 3:04 p.m. | Last Modified: 22 Jul 2021, 3:04 p.m.
Panel Version: 2.31

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

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 22 Jul 2021, 3:04 p.m.
Last Modified: 22 Jul 2021, 3:04 p.m.
Panel version: 2.31

Zornitza Stark (Australian Genomics)

I don't know

Two individuals reported with variants in this gene as part of a large craniosynostosis cohort.
Sources: Expert list
Created: 3 Jul 2020, 3:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Craniosynostosis

Publications

Created: 3 Jul 2020, 3:24 a.m.

Panel version: 2.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • craniosynostosis, MONDO:0015469
OMIM
602115
Clinvar variants
Variants in FGF10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: fgf10 has been classified as Amber List (Moderate Evidence).

22 Jul 2021, Gel status: 0

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: FGF10 were changed from Craniosynostosis to craniosynostosis, MONDO:0015469

3 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: FGF10 was added gene: FGF10 was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGF10 were set to 29215649 Phenotypes for gene: FGF10 were set to Craniosynostosis Review for gene: FGF10 was set to AMBER