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  3. FUT8
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Genetic Epilepsy

Gene: FUT8

Green List (high evidence)
FUT8 (fucosyltransferase 8)
EnsemblGeneIds (GRCh38): ENSG00000033170
EnsemblGeneIds (GRCh37): ENSG00000033170
OMIM: 602589, Gene2Phenotype
FUT8 is in 5 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

8 unrelated probands with biallelic variants (7 homozygous & 1 compound het) with loss of core fucosylation identified in the serum. All individuals had a short stature, developmental delay/ID, epilepsy, and microcephaly. Some aspects of the null mouse model phenotype recapitulate the human phenotype.
Created: 13 May 2022, 3:46 a.m. | Last Modified: 13 May 2022, 3:46 a.m.
Panel Version: 0.14220

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation with defective fucosylation 1 MONDO:0020775

Publications

Created: 13 May 2022, 3:46 a.m.
Last Modified: 13 May 2022, 3:46 a.m.
Panel version: Imported from Mendeliome panel version 0.14220

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated individuals, all had seizures as part of the phenotype.
Sources: Expert list
Created: 22 Jan 2020, 10:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation with defective fucosylation, 618005

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Jan 2020, 10:40 a.m.

Panel version: 0.293

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
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

22 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FUT8 was added gene: FUT8 was added to Genetic Epilepsy. Sources: Expert list 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 gene: FUT8 was marked as current diagnostic