Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: FBXO11EnsemblGeneIds (GRCh38): ENSG00000138081
EnsemblGeneIds (GRCh37): ENSG00000138081
OMIM: 607871, Gene2Phenotype
FBXO11 is in 6 panels
3 reviews
Eleanor Williams (Genomics England Curator)
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
Achchuthan Shanmugasundram (Genomics England Curator)
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
Rebecca Tooze (University of Oxford)
• 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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:618089
- OMIM
- 607871
- Clinvar variants
- Variants in FBXO11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_23_promote_green was removed from gene: FBXO11.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)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)
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_23_promote_green tag was added to gene: FBXO11.
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: fbxo11 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: FBXO11 were changed from to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:618089
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: FBXO11 were set to
Created, Added New Source, Set mode of inheritance
Rebecca Tooze (University of Oxford)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