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  3. GNE
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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

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 14 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
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

Created: 10 May 2019, 1:53 p.m.

Panel version: 1.97

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.
Created: 30 Apr 2019, 11:45 a.m.

Panel version: 1.46

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

Created: 30 Apr 2019, 11:24 a.m.

Panel version: 1.22

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

Created: 26 Mar 2019, 4:37 p.m.

Panel version: 1.15

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

Created: 26 Jul 2016, 12:10 p.m.

Panel version: 0.97

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