Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: GNEEnsemblGeneIds (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 myopathyCreated: 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)
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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Nonaka myopathy (MIM#605820)
- OMIM
- 603824
- Clinvar variants
- Variants in GNE
- Penetrance
- None
- Publications
- Panels with this gene
-
- Motor Neurone Disease
- Mackenzie's Mission_Reproductive Carrier Screening
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Congenital Disorders of Glycosylation
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
History Filter Activity
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: GNE were set to 22883483
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gne has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gne has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gne has been classified as Amber List (Moderate Evidence).
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