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Inborn errors of metabolism

Gene: PNPLA2

No list

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

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PLPLA2 is a triglyceride lipase and this is a lipid storage disorder.
Sources: Expert Review
Created: 7 Feb 2021, 3:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neutral lipid storage disease with myopathy MIM#610717

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Neutral lipid storage disease with myopathy MIM#610717
OMIM
609059
Clinvar variants
Variants in PNPLA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PNPLA2 was added gene: PNPLA2 was added to Inborn errors of metabolism. Sources: Expert Review Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA2 were set to 18952067; 25287355; 25956450 Phenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy MIM#610717 Review for gene: PNPLA2 was set to GREEN