Congenital disorders of glycosylation
Gene: GNEEnsemblGeneIds (GRCh38): ENSG00000159921
EnsemblGeneIds (GRCh37): ENSG00000159921
OMIM: 603824, Gene2Phenotype
GNE is in 14 panels
3 reviews
Rebecca Foulger (Genomics England curator)
GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q9Y223-1Created: 9 Jan 2020, 2:36 p.m. | Last Modified: 9 Jan 2020, 2:36 p.m.
Panel Version: 2.0
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 13 variants reported in numerous patientsCreated: 19 Dec 2016, 10:02 a.m.
Comment on phenotypes: Also associated with Sialuria 269921Created: 19 Dec 2016, 9:58 a.m.
Comment on mode of inheritance: Sialuria 269921 is monoallelicCreated: 19 Dec 2016, 9:51 a.m.
Daniel Ungar (University of York, Department of Biology)
Only some of the patients described have been confirmed to have glycosylation defects. It is unclear if glycosylation defects are the cause for the pathogenecity, or possibly other mechanisms are at play. Nevertheless mutations in this gene are causative to late onset myopathy. Some GNE mutations cause sialuria.Created: 13 Dec 2016, 9:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Nonaka myopathy 605820
- ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
- OMIM
- 603824
- Clinvar variants
- Variants in GNE
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Bleeding and platelet disorders
- DDG2P
- Congenital myopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Inherited bleeding disorders
- Distal myopathies
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Intellectual disability
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenia - NOT Fanconi anaemia
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 19th December 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GNE were set to Nonaka myopathy 605820; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Set publications
Sarah Leigh (Genomics England Curator)Publications for GNE were set to 26721333
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for GNE was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)GNE was added to Congenital disorders of glycosylationpanel. Source: UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)GNE was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)GNE was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene GNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)GNE was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Sarah Leigh (Genomics England Curator)GNE was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
Created
Sarah Leigh (Genomics England Curator)GNE was created by sleigh