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Paediatric or syndromic cardiomyopathy

Gene: PNPLA2

Amber List (moderate evidence)

PNPLA2 (patatin like phospholipase domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000177666
EnsemblGeneIds (GRCh37): ENSG00000177666
OMIM: 609059, Gene2Phenotype
PNPLA2 is in 8 panels

3 reviews

Ivone Leong (Genomics England Curator)

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

Ellen McDonagh (Genomics England Curator)

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

Rebecca Whittington (South West GLH)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
  • MetBioNet
  • MetBioNet
  • South West GLH
Phenotypes
  • DCM
  • Neutral lipid storage disease with myopathy NLSDM
  • Lipid myopathy, muscle weakness Jordans anomaly - neutral lipidcontaining vacuoles in leukocytes
OMIM
609059
Clinvar variants
Variants in PNPLA2
Penetrance
None
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to PNPLA2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PNPLA2.

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

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