Congenital myopathy
Gene: GNEEnsemblGeneIds (GRCh38): ENSG00000159921
EnsemblGeneIds (GRCh37): ENSG00000159921
OMIM: 603824, Gene2Phenotype
GNE is in 14 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonaka myopathy 605820
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Adult phenotypeCreated: 3 Feb 2017, 10:51 a.m.
Comment on list classification: Adult presentationCreated: 3 Feb 2017, 10:48 a.m.
Reported age of onset is in adulthood therefore not recommended for congenital myopathy panel.Created: 26 Jan 2017, 2:19 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonaka myopathy 605820
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Nonaka myopathy, OMIM:605820
- OMIM
- 603824
- Clinvar variants
- Variants in GNE
- Penetrance
- Complete
- Panels with this gene
-
- Bleeding and platelet disorders
- DDG2P
- Congenital myopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Inherited bleeding disorders
- Distal myopathies
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Intellectual disability
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenia - NOT Fanconi anaemia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GNE were changed from Nonaka myopathy 605820 to Nonaka myopathy, OMIM:605820
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for GNE were set to Nonaka myopathy 605820
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()GNE was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()GNE was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services