Early onset or syndromic epilepsy
Gene: FUT2

FUT2 (fucosyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000176920
EnsemblGeneIds (GRCh37): ENSG00000176920
OMIM: 182100, Gene2Phenotype
FUT2 is in 4 panels

1 review

Arina Puzriakova (Genomics England Curator)

Comment on publications: PMID: 39350204 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 26 Mar 2025, 9:36 p.m. | Last Modified: 26 Mar 2025, 9:36 p.m.

Panel Version: 7.81

PMID: 39350204 (2024) - homozygous missense variant (NC_000019.10:g.48703291C>T) in the FUT2 gene was identified in an infant with vitamin B12-responsive developmental and epileptic encephalopathy and megaloblastic anemia. Although the mechanism of how the FUT2 gene variant affects vitamin B12 absorption is unclear.

Additional evidence is required before conclusively implicating FUT2 in human disease and therefore rating Red for now.
Sources: Literature
Created: 26 Mar 2025, 9:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy

Publications

39350204

Created: 26 Mar 2025, 9:35 p.m.

Panel version: 7.80

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

Phenotypes

Developmental and epileptic encephalopathy

OMIM

182100

Clinvar variants

Variants in FUT2

Penetrance

None

Publications

39350204

Panels with this gene

History Filter Activity

26 Mar 2025, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: FUT2 were set to 39350204

26 Mar 2025, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: FUT2 was added gene: FUT2 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: FUT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUT2 were set to 39350204 Phenotypes for gene: FUT2 were set to Developmental and epileptic encephalopathy

Early onset or syndromic epilepsy Gene: FUT2