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  2. Fetal anomalies
  3. FBXW11
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Fetal anomalies

Gene: FBXW11

Amber List (moderate evidence)
FBXW11 (F-box and WD repeat domain containing 11)
EnsemblGeneIds (GRCh38): ENSG00000072803
EnsemblGeneIds (GRCh37): ENSG00000072803
OMIM: 605651, Gene2Phenotype
FBXW11 is in 5 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Elizabeth Scotchman (North Thames Genomic Laboratory Hub)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Green on Australian fetal anomalies panel. PMID 31402090: 7 individuals with de novo missense FBXW11 variants and striking neurodevelopmental, digital, jaw, and eye anomalies, and in one individual, features resembling Noonan syndrome. PMID 40188065: one individual with cardiovascular USS finding with de novo missense variant. FO rnext review - keep amber.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental, jaw, eye, and digital syndrome

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
This review was provided by Alison Male from North Thames GLH: Causes ACC and polydactyly - only one paper. Amber, need more cases of prenatal phenotype.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.36

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914
  • Neurodevelopmental, jaw, eye, and digital syndrome
OMIM
605651
Clinvar variants
Variants in FBXW11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 2

Set Phenotypes, Set publications

Arina Puzriakova (Genomics England Curator)

Added phenotypes Neurodevelopmental, jaw, eye, and digital syndrome for gene: FBXW11 Publications for gene: FBXW11 were updated from 31402090 to 31402090; 40188065

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FBXW11 was added gene: FBXW11 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBXW11 were set to 31402090 Phenotypes for gene: FBXW11 were set to Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914