Congenital myopathy

Gene: PNPLA2

Red List (low evidence)

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

2 reviews

Anna Sarkozy (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neutral Lipid Storage Disease with Myopathy; Neutral lipid storage disease with myopathy, 610717

Publications

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Not in age range for inclusion on this panel
Created: 3 Feb 2017, 11:03 a.m.
Comment on list classification: Adult phenotype
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Neutral Lipid Storage Disease with Myopathy
  • Neutral lipid storage disease with myopathy, 610717
OMIM
609059
Clinvar variants
Variants in PNPLA2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 1

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Feb 2017, Gel status: 1

Set publications

Helen Brittain (Genomics England Curator)

Publications for PNPLA2 were set to 21544567

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

PNPLA2 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

PNPLA2 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services