Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: FGF10
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
Two individuals reported with variants in this gene as part of a large craniosynostosis cohort.
Sources: Expert listCreated: 3 Jul 2020, 3:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Craniosynostosis
Publications
Gene: fgf10 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: FGF10 were changed from Craniosynostosis to craniosynostosis, MONDO:0015469
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