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Intellectual disability syndromic and non-syndromic

Gene: FUT8

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated individuals reported with bi-allelic variants in this gene.
Sources: Expert list
Created: 3 Dec 2019, 10:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation with defective fucosylation 1, MIM#618005

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation with defective fucosylation 1, MIM#618005
OMIM
602589
Clinvar variants
Variants in FUT8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2019, 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).

3 Dec 2019, 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).

3 Dec 2019, 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 Intellectual disability, syndromic and non-syndromic_GHQ. 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 1, MIM#618005 Review for gene: FUT8 was set to GREEN