Paediatric or syndromic cardiomyopathy

Gene: PNPLA2

Green List (high evidence)

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

Green List (high evidence)

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

• National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp

I don't know

Neutral lipid storage disease with myopathy OMIM#610717

Created: 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