Congenital disorders of glycosylation
Gene: GNEGlyGen 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
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.
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
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for GNE were set to Nonaka myopathy 605820; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Publications for GNE were set to 26721333
Mode of inheritance for GNE was changed to BIALLELIC, autosomal or pseudoautosomal
GNE was added to Congenital disorders of glycosylationpanel. Source: UKGTN
GNE was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
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
GNE was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
GNE was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
GNE was created by sleigh