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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 | FBXO11 | Eleanor Williams Tag Q2_23_promote_green was removed from gene: FBXO11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 | FBXO11 | Eleanor Williams reviewed gene: FBXO11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 | FBXO11 |
Eleanor Williams 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) |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.26 | FBXO11 | Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: FBXO11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.26 | FBXO11 | Achchuthan Shanmugasundram Classified gene: FBXO11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.26 | FBXO11 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.26 | FBXO11 | Achchuthan Shanmugasundram Gene: fbxo11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.25 | FBXO11 | Achchuthan Shanmugasundram Phenotypes for gene: FBXO11 were changed from to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:618089 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.24 | FBXO11 | Achchuthan Shanmugasundram Publications for gene: FBXO11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.23 | FBXO11 | Achchuthan Shanmugasundram reviewed gene: FBXO11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057029, 34429528; Phenotypes: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:618089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v3.4 | FBXO11 |
Rebecca Tooze 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 Added comment: • 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: Literature |
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