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  3. FBXO28
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DDG2P

Gene: FBXO28

Green List (high evidence)
FBXO28 (F-box protein 28)
EnsemblGeneIds (GRCh38): ENSG00000143756
EnsemblGeneIds (GRCh37): ENSG00000143756
OMIM: 609100, Gene2Phenotype
FBXO28 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for FBXO28-related developmental and epileptic encephalopathy with profound intellectual disability are definitive, monoallelic_autosomal and undetermined (PMIDs: 30160831, 33280099, 37543484). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03080.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease FBX028-related developmental and epileptic encephalopathy with profound intellectual disability is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 30160831;33280099).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
FBXO28-related developmental and epileptic encephalopathy with profound intellectual disability; MONDO:0030695; FBX028-related developmental and epileptic encephalopathy with profound intellectual disability; OMIM:619777.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FBX028-related developmental and epileptic encephalopathy with profound intellectual disability
OMIM
609100
Clinvar variants
Variants in FBXO28
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: FBXO28 was changed from Other to None

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FBXO28 was added gene: FBXO28 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXO28 were set to 30160831; 33280099 Phenotypes for gene: FBXO28 were set to FBX028-related developmental and epileptic encephalopathy with profound intellectual disability Mode of pathogenicity for gene: FBXO28 was set to Other