Congenital muscular dystrophy and 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
gene: PNPLA2 was added gene: PNPLA2 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: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA2 were set to 21544567 Phenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy, OMIM:610717 Penetrance for gene: PNPLA2 were set to Complete