Congenital Disorders of Glycosylation

Gene: GNE

Green List (high evidence)

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

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

History Filter Activity

21 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GNE were changed from to Nonaka myopathy 605820; Sialuria MIM#269921; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)

21 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GNE were set to

21 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GNE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNE was added gene: GNE was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GNE was set to Unknown