Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: FBXO11
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 11:55 a.m. | Last Modified: 11 Oct 2023, 11:55 a.m.
Panel Version: 4.174
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on list classification: As reviewed by Rebecca Tooze (University of Oxford), there are three unrelated cases reported with variants in this gene and craniosynostosis. Hence, this gene can be promoted to GREEN at the next GMS update.Created: 10 May 2023, 3:29 p.m. | Last Modified: 10 May 2023, 3:29 p.m.
Panel Version: 4.26
PMID:30057029 reported two cases with craniosynostosis and variants in FBXO11. Of these, one individual had sagittal synostosis and other had metopic craniosynostosis.
PMID:34429528 reported the identification of a de novo insertion within the 100kGP cohort of patients with craniosynostosis, as reviewed by Rebecca Tooze.Created: 10 May 2023, 3:27 p.m. | Last Modified: 10 May 2023, 3:27 p.m.
Panel Version: 4.23
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:618089
Publications
• A de novo insertion was identified within the 100kGP cohort of patients with craniosynostosis: c.2731_2732insGACA; p.(Thr911Argfs*5) (Hyder et al., 2021).
• Two patients were described with craniosynostosis and variants in FBXO11: c.2518T>C, p.(Ser840Pro) in an individual with sagittal synostosis, and hg19: chr2: g.48060020C>G, c.1042- 1G>C; p.(?) (Gregor et al., 2018).
Sources: LiteratureCreated: 2 Mar 2023, 1:44 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q2_23_promote_green was removed from gene: FBXO11.
Source Expert Review Green was added to FBXO11. Source NHS GMS was added to FBXO11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_23_promote_green tag was added to gene: FBXO11.
Gene: fbxo11 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: FBXO11 were changed from to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:618089
Publications for gene: FBXO11 were set to
gene: FBXO11 was added gene: FBXO11 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for gene: FBXO11 was set to GREEN