Congenital muscular dystrophy and 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
-
- Distal myopathies
- Arthrogryposis
- Lysosomal storage disorder
- Cytopenia - NOT Fanconi anaemia
- Congenital disorders of glycosylation
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Bleeding and platelet disorders
- Congenital myopathy
- Undiagnosed metabolic disorders
- Inherited bleeding disorders
- DDG2P
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: GNE was added gene: GNE was added to Congenital muscular dystrophy and congenital myopathy. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNE were set to Nonaka myopathy, OMIM:605820 Penetrance for gene: GNE were set to Complete