Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: GNEComment on list classification: Distal myopathyCreated: 14 Apr 2023, 5:55 a.m. | Last Modified: 14 Apr 2023, 5:55 a.m.
Panel Version: 0.88
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, 8:13 a.m. | Last Modified: 21 Dec 2020, 8:13 a.m.
Panel Version: 0.5753
Mode of inheritance
BOTH monoallelic and 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
Primarily a distal myopathy however proximal muscle weakness have also been reported. Limited evidence supporting LGMD phenotype.
PMID: 22883483: Half the patients reported with LGMD type proximal muscle weakness.
Sources: Expert ReviewCreated: 1 Jul 2020, 3:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonaka myopathy (MIM#605820)
Publications
Publications for gene: GNE were set to 22883483
Gene: gne has been classified as Green List (High Evidence).
Gene: gne has been classified as Amber List (Moderate Evidence).
Gene: gne has been classified as Amber List (Moderate Evidence).
gene: GNE was added gene: GNE was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNE were set to 22883483 Phenotypes for gene: GNE were set to Nonaka myopathy (MIM#605820) Review for gene: GNE was set to AMBER