Congenital myopathy
Gene: PNPLA2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutral Lipid Storage Disease with Myopathy; Neutral lipid storage disease with myopathy, 610717
Publications
Comment when marking as ready: Not in age range for inclusion on this panelCreated: 3 Feb 2017, 11:03 a.m.
Comment on list classification: Adult phenotypeCreated: 3 Feb 2017, 11:02 a.m.
Information to date suggests adult onset (approx. 3rd decade) therefore not appropriate for congenital myopathy panel.Created: 26 Jan 2017, 2:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutral lipid storage disease with myopathy 610717
Publications
Phenotypes for gene: PNPLA2 were changed from Neutral Lipid Storage Disease with Myopathy; Neutral lipid storage disease with myopathy, 610717 to Neutral lipid storage disease with myopathy, OMIM:610717
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).
Publications for PNPLA2 were set to 21544567
This gene has been classified as Red List (Low Evidence).
PNPLA2 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
PNPLA2 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services