Congenital Disorders of Glycosylation
Gene: GNE

GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase)
EnsemblGeneIds (GRCh38): ENSG00000159921
EnsemblGeneIds (GRCh37): ENSG00000159921
OMIM: 603824, Gene2Phenotype
GNE is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mono-allelic variants associated with Sialuria, which is characterised by excessive synthesis of free sialic acid. Clinical features include hepatosplenomegaly, coarse facial features, and varying degrees of developmental delay. Over 10 unrelated individuals reported.

Bi-allelic variants associated with a myopathy phenotype, more than 30 unrelated families reported.
Created: 21 Dec 2020, 8:11 a.m. | Last Modified: 21 Dec 2020, 8:11 a.m.

Panel Version: 0.346

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nonaka myopathy 605820; Sialuria MIM#269921; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)

Publications

Created: 21 Dec 2020, 8:11 a.m.
Last Modified: 21 Dec 2020, 8:11 a.m.
Panel version: 0.346

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Nonaka myopathy 605820
Sialuria MIM#269921
ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)

OMIM

603824

Clinvar variants

Variants in GNE

Penetrance

None

Publications

Panels with this gene