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Cardiomyopathies - including childhood onset

Gene: PNPLA2

Green List (high 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)

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
  • NHS GMS
  • South West GLH
  • MetBioNet
  • Expert Review Green
  • Expert Review Green
  • 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

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