Likely inborn error of metabolism
Gene: FUT8

FUT8 (fucosyltransferase 8)
EnsemblGeneIds (GRCh38): ENSG00000033170
EnsemblGeneIds (GRCh37): ENSG00000033170
OMIM: 602589, Gene2Phenotype
FUT8 is in 8 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Adding to Undiagnosed metabolic disorders panel after reviewing panels for GMS, as recommended by the Genomics England clinical team, to benefit the 100K participants. Enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Sources: Expert Review
Created: 5 Jul 2019, 9:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation with defective fucosylation, 618005

Publications

29304374

Created: 5 Jul 2019, 9:22 a.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 1.117

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review
Expert Review Green

Phenotypes

Congenital disorder of glycosylation with defective fucosylation, 618005

OMIM

602589

Clinvar variants

Variants in FUT8

Penetrance

None

Publications

29304374

Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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