Congenital myopathy
Gene: GNE
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonaka myopathy 605820
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
Phenotypes for gene: GNE were changed from Nonaka myopathy 605820 to Nonaka myopathy, OMIM:605820
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.
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 Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
GNE was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services