Paediatric or syndromic cardiomyopathy
Gene: PNPLA2
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 11:32 a.m. | Last Modified: 8 Mar 2022, 11:32 a.m.
Panel Version: 1.67
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Comment on list classification: Promoted to Green based on the MetBioNet guideline, and clinical input from Ellen Thomas (Genomics England).Created: 30 Apr 2019, 1:10 p.m.
This gene was included in Table 1 for a diagnostic test from the MetBioNet guideline - see publications field for URL to the guideline.Created: 18 Apr 2019, 11:53 a.m.
Phenotypes
Neutral lipid storage disease with myopathy NLSDM; Lipid myopathy, muscle weakness Jordans anomaly - neutral lipidcontaining vacuoles in leukocytes; DCM
Publications
Neutral lipid storage disease with myopathy OMIM#610717Created: 25 Mar 2019, 4:30 p.m.
Recommended testing in MetBioNet Best Practice Guidelines: Bowron & Olpin (2012). Investigation of an inherited metabolic cause of cardiomyopathy. (www.metbio.net). Late childhood to adult onset of muscle weakness and cardiomyopathy can be common later onset feature.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Amber was added to PNPLA2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source NHS GMS was added to PNPLA2.
gene: PNPLA2 was added gene: PNPLA2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA2 were set to DCM; Neutral lipid storage disease with myopathy NLSDM; Lipid myopathy, muscle weakness Jordans anomaly - neutral lipidcontaining vacuoles in leukocytes