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Undiagnosed metabolic disorders

Gene: FUT8

Green List (high evidence)

FUT8 (fucosyltransferase 8)
EnsemblGeneIds (GRCh38): ENSG00000033170
EnsemblGeneIds (GRCh37): ENSG00000033170
OMIM: 602589, Gene2Phenotype
FUT8 is in 7 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Congenital disorder of glycosylation with defective fucosylation, 618005
OMIM
602589
Clinvar variants
Variants in FUT8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: fut8 has been classified as Green List (High Evidence).

5 Jul 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: FUT8 was added gene: FUT8 was added to Undiagnosed metabolic disorders. Sources: Expert Review Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUT8 were set to 29304374 Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation, 618005 Review for gene: FUT8 was set to GREEN