Fatty Acid Oxidation Defects
Gene: LPIN1

LPIN1 (lipin 1)
EnsemblGeneIds (GRCh38): ENSG00000134324
EnsemblGeneIds (GRCh37): ENSG00000134324
OMIM: 605518, Gene2Phenotype
LPIN1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

LPIN1 is a Mg(2+)-dependent phosphatidic acid (PA) phosphohydrolase that catalyzes the dephosphorylation of PA to yield diacylglycerol and inorganic phosphate.

Well established gene-disease association. Episodes of rhabdomyolysis are typically triggered by intercurrent infection, and onset is in childhood, though onset in adolescence and adulthood also reported.
Created: 30 Dec 2020, 10:22 p.m. | Last Modified: 30 Dec 2020, 10:22 p.m.

Panel Version: 0.45

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200

Publications

Created: 30 Dec 2020, 10:22 p.m.
Last Modified: 30 Dec 2020, 10:22 p.m.
Panel version: 0.45

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200

OMIM

605518

Clinvar variants

Variants in LPIN1

Penetrance

None

Publications

Panels with this gene