Limb-Girdle Muscular Dystrophy and Distal Myopathy

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

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Distal myopathy
Created: 14 Apr 2023, 5:55 a.m. | Last Modified: 14 Apr 2023, 5:55 a.m.
Panel Version: 0.88

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, 8:13 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

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

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 Review
Created: 1 Jul 2020, 3:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nonaka myopathy (MIM#605820)

Publications

History Filter Activity

14 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: GNE were set to 22883483

14 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

1 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gne has been classified as Amber List (Moderate Evidence).

1 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gne has been classified as Amber List (Moderate Evidence).

1 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Crystle Lee (Victorian Clinical Genetics Services)

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