Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: GNEComment 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
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
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.
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 paperCreated: 30 Apr 2019, 11:24 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Nonaka myopathy, 605820
Publications
Comment when marking as ready: Numerous variants reported in Nonaka myopathy 605820, but this phenotype not relevant to limb girdle muscular dystrophyCreated: 26 Jul 2016, 12:10 p.m.
Comment on phenotypes: Variants also reported in Sialuria 269921Created: 26 Jul 2016, 12:09 p.m.
Comment on list classification: Associated with Nonaka myopathy 605820, which manifests with distal muscle weakness and atrophyCreated: 26 Jul 2016, 12:08 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: gne has been classified as Green List (High Evidence).
Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Gene: gne has been classified as Green List (High Evidence).
Source Yorkshire and North East GLH was added to GNE.
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
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
Mode of inheritance for gene: GNE was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNE were changed from Nonaka myopathy 605820 to Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy
Publications for gene: GNE were set to
Source NHS GMS was added to GNE.
Source South West GLH was added to GNE.
Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
This gene has been classified as Red List (Low Evidence).
Phenotypes for GNE were set to Nonaka myopathy 605820
This gene has been classified as Red List (Low Evidence).
GNE was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
GNE was created by sleigh