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Fetal anomalies

Gene: FBXO11

Red List (low evidence)
FBXO11 (F-box protein 11)
EnsemblGeneIds (GRCh38): ENSG00000138081
EnsemblGeneIds (GRCh37): ENSG00000138081
OMIM: 607871, Gene2Phenotype
FBXO11 is in 6 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
This review was added on behalf of Dr Tazeen Ashraf (GOSH): 38268232 - prenatal WES but no scan abnormalities detectable in this case. 41230589 - child with dd and dysmorphic features - no scan anomalies described. Gene is green on ID, epilepsy and craniosynostosis panels. No prenatal phenotype described. LOF published mechanism. Listed red as currently the phenotype described is unlikely to be seen on antenatal scans.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:618089

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.148

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FBXO11 gene rating from Green to Red.
Created: 29 Apr 2019, 2:52 p.m.
Added watchlist tag to reflect multiple Disease confidence ratings in DD-G2P for different disorders: Rated confirmed for Variable Neurodevelopmental Disorder. Rated possible for FBXO11 related intellectual disability.
Created: 22 Apr 2019, 8:12 p.m.
DDG2P disorder: FBXO11 related intellectual disability. DDG2P Disease confidence: possible. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: monoallelic. New gene:disorder association added to DDG2P in March 2019: Variable Neurodevelopmental Disorder. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: monoallelic. Added to Fetal anomalies panel awaiting clinical review.
Created: 22 Apr 2019, 8:06 p.m.
Created: 22 Apr 2019, 8:06 p.m.

Panel version: 0.225

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • Variable Neurodevelopmental Disorder
  • Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:618089
Tags
watchlist
OMIM
607871
Clinvar variants
Variants in FBXO11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:618089 for gene: FBXO11

29 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to FBXO11. Rating Changed from Green List (high evidence) to Red List (low evidence)

22 Apr 2019, Gel status: 4

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: FBXO11.

22 Apr 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: FBXO11 was added gene: FBXO11 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXO11 were set to 30057029 Phenotypes for gene: FBXO11 were set to Variable Neurodevelopmental Disorder