Distal myopathies
Gene: GNE
GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase)
EnsemblGeneIds (GRCh38): ENSG00000159921
EnsemblGeneIds (GRCh37): ENSG00000159921
OMIM: 603824, Gene2Phenotype
GNE is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000159921
EnsemblGeneIds (GRCh37): ENSG00000159921
OMIM: 603824, Gene2Phenotype
GNE is in 14 panels
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: mutations in this gene cause a distal myopathy phenotypeCreated: 20 Feb 2017, 4:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonaka myopathy, 605820
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Nonaka myopathy, 605820
- OMIM
- 603824
- Clinvar variants
- Variants in GNE
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Lysosomal storage disorder
- Cytopenia - NOT Fanconi anaemia
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Likely inborn error of metabolism
- Bleeding and platelet disorders
- Congenital myopathy
- Undiagnosed metabolic disorders
- DDG2P
- Inherited bleeding disorders
- Congenital disorders of glycosylation
- Distal myopathies
- Arthrogryposis
History Filter Activity
22 Feb 2017, Gel status: 4
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.
20 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
20 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
31 Jan 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)GNE was added to Distal myopathiespanel. Sources: Expert Review
31 Jan 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)GNE was created by arianna