Congenital Disorders of Glycosylation
Gene: GNE
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
Gene: gne has been classified as Green List (High Evidence).
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)
Publications for gene: GNE were set to
Mode of inheritance for gene: GNE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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