Limb girdle muscular dystrophy

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

6 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Created: 28 Nov 2019, 5 p.m. | Last Modified: 28 Nov 2019, 5 p.m.
Panel Version: 1.151
Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives, and more than 3 cases reported.
Created: 28 Nov 2019, 5 p.m. | Last Modified: 28 Nov 2019, 5 p.m.
Panel Version: 1.150

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

currently provided through LGMD panel at HSS LGMD in Ncl. Proximal and distal weakness, differential diagnosis with LGMD.
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Limb-girdle muscular dystrophy; quadriceps sparing myopathy; distal myopathy; Nonaka myopathy, HIBM

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 30 Apr 2019, 11:45 a.m.

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

1 case. PubMed: 22883483 - analysis of 11 Korean patients with GNE mutations. About half of the patients showed limb-girdle myopathy rather than distal myopathy. Cannot access paper
Created: 30 Apr 2019, 11:24 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Nonaka myopathy, 605820

Publications

Elizabeth Harris (Newcastle upon Tyne NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Distal myopathy; Limg girdle muscular dystrophy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Numerous variants reported in Nonaka myopathy 605820, but this phenotype not relevant to limb girdle muscular dystrophy
Created: 26 Jul 2016, 12:10 p.m.
Comment on phenotypes: Variants also reported in Sialuria 269921
Created: 26 Jul 2016, 12:09 p.m.
Comment on list classification: Associated with Nonaka myopathy 605820, which manifests with distal muscle weakness and atrophy
Created: 26 Jul 2016, 12:08 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Nonaka myopathy, 605820
  • Distal myopathy
  • Limb girdle muscular dystrophy
  • Limb-girdle muscular dystrophy
  • quadriceps sparing myopathy
  • distal myopathy
  • Nonaka myopathy, HIBM
OMIM
603824
Clinvar variants
Variants in GNE
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

28 Nov 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to GNE.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GNE were changed from Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy; Limb-girdle muscular dystrophy; quadriceps sparing myopathy; distal myopathy; Nonaka myopathy, HIBM to Nonaka myopathy, 605820; Distal myopathy; Limb girdle muscular dystrophy; Limb-girdle muscular dystrophy; quadriceps sparing myopathy; distal myopathy; Nonaka myopathy, HIBM

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GNE were changed from Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy to Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy; Limb-girdle muscular dystrophy; quadriceps sparing myopathy; distal myopathy; Nonaka myopathy, HIBM

13 May 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: GNE was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

30 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GNE were changed from Nonaka myopathy 605820 to Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy

30 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: GNE were set to

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GNE.

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to GNE.

27 Jul 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

26 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

26 Jul 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GNE were set to Nonaka myopathy 605820

26 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

26 Jul 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

GNE was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

26 Jul 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GNE was created by sleigh