1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. PNPLA2
STRs in panel
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Congenital muscular dystrophy and 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

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.83

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

Created: 26 Jan 2017, 2:56 p.m.

Copied from panel: Congenital myopathy v3.83

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, OMIM:610717
OMIM
609059
Clinvar variants
Variants in PNPLA2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2023, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: PNPLA2 was added gene: PNPLA2 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA2 were set to 21544567 Phenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy, OMIM:610717 Penetrance for gene: PNPLA2 were set to Complete