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  3. FBXO22
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Fetal anomalies

Gene: FBXO22

Amber List (moderate evidence)
FBXO22 (F-box protein 22)
EnsemblGeneIds (GRCh38): ENSG00000167196
EnsemblGeneIds (GRCh37): ENSG00000167196
OMIM: 609096, Gene2Phenotype
FBXO22 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

New gene added to this panel with an Amber rating, 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

Natalie Bibb (C&S GLH)

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
Amber on ID and short stature panels.Green on Australia ID and growth failure panels not on FA panel. PMID: 40215970 Single literaure report May 2025, 15 patients from 14 consanguineous families with Tayoun-Maawali syndrome. prenatal onset growth restriction and notable neurodevelopmental delay identified homozygous mutations in the FBXO22 gene. Amber - await further independent reports.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tayoun-Maawali syndrome

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Tayoun-Maawali syndrome
OMIM
609096
Clinvar variants
Variants in FBXO22
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: FBXO22 was added gene: FBXO22 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: FBXO22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBXO22 were set to 40215970 Phenotypes for gene: FBXO22 were set to Tayoun-Maawali syndrome