Limb-Girdle Muscular Dystrophy and Distal Myopathy

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 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides. More than 5 families reported.
Created: 7 Feb 2021, 3:10 a.m. | Last Modified: 7 Feb 2021, 3:10 a.m.
Panel Version: 0.6247

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neutral lipid storage disease with myopathy MIM#610717

Publications

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 32269696 - 1 patient with both upper and lower limb weakness. She had elevated CK levels, with onset >25 years old.

PMID: 21544567 - 6 patients with distal muscle weakness, shoulder girdle weakness and elevated CK levels. Severe dystrophic features of the shoulder girdle noted in 3/3 patients analysed by whole body MRI. Proximal muscle weakness was generalised first, with lower limbs affected in the 3rd/4th decade of life. Earliest age of onset 29 years old, 5/6 patients had homozygous PTCs.
Sources: Literature
Created: 22 Jun 2020, 1:16 a.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 Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Neutral lipid storage disease with myopathy 610717
OMIM
609059
Clinvar variants
Variants in PNPLA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pnpla2 has been classified as Green List (High Evidence).

22 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pnpla2 has been classified as Green List (High Evidence).

22 Jun 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: PNPLA2 was added gene: PNPLA2 was added to Limb Girdle Muscular Dystrophy. Sources: Literature Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA2 were set to PMID: 32269696; 21544567 Phenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy 610717 Review for gene: PNPLA2 was set to GREEN