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Fetal anomalies

Gene: FBXO28

Green List (high evidence)
FBXO28 (F-box protein 28)
EnsemblGeneIds (GRCh38): ENSG00000143756
EnsemblGeneIds (GRCh37): ENSG00000143756
OMIM: 609100, Gene2Phenotype
FBXO28 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
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
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Elizabeth Scotchman (North Thames Genomic Laboratory Hub)

Green List (high evidence)

Green on UK panels: DDG2P, Early onset or syndromic epilepsy and Intellectual disability. PMID 33280099 9/10 patients had brain abnormalities showing prominentfindings of atrophy (6) and delayed/abnormal myelination (2). Brain malformations included a simplified gyral pattern (2), pachygyria (1), cortical dysplasia (1), and polymi-crogyria (1). PMID 37543484 case report - Brain MRI and MR spectroscopy were performed at the age of 6 months, 12 months, and 2 years and 8 months. MRI showed progressive cerebral atrophy, especially due to a white matter volume reduction; atrophy of the midbrain, cerebellum, and basal ganglia, especially the caudate head; and a thin corpus callosum.
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
Developmental and epileptic encephalopathy 100, OMIM:619777

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 100, OMIM:619777
OMIM
609100
Clinvar variants
Variants in FBXO28
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Developmental and epileptic encephalopathy 100, OMIM:619777 for gene: FBXO28

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: FBXO28 was added gene: FBXO28 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted