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  2. Limb-Girdle Muscular Dystrophy and Distal Myopathy
  3. LPIN1
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Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: LPIN1

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

3 reviews

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, 10:24 p.m. | Last Modified: 30 Dec 2020, 10:24 p.m.
Panel Version: 0.5885

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 30 Dec 2020, 10:24 p.m.
Last Modified: 30 Dec 2020, 10:24 p.m.
Panel version: Imported from Mendeliome panel version 0.5885

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Biallelic variants reported in>5 families. Rhabdomyolysis is a significant feature. Patients present with muscle weakness and elevated CK. Added as a differential diagnosis to LGMD (PanelApp UK)
Sources: Expert Review
Created: 1 Jul 2020, 12:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 1 Jul 2020, 12:44 a.m.

Panel version: 0.35

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 cases/families. Condition is characterised by recurrent attacks of rhabdomyolysis. Usually paediatric onset, but adult onset has been reported.
Sources: Expert list
Created: 12 Feb 2020, 5:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myoglobinuria, acute recurrent, autosomal recessive MIM#268200

Publications

Created: 12 Feb 2020, 5:59 a.m.

Panel version: Imported from Myopathy - adult onset panel version 0.24

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
  • Expert Review Green
  • Expert list
  • 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

History Filter Activity

29 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lpin1 has been classified as Amber List (Moderate Evidence).

29 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lpin1 has been classified as Amber List (Moderate Evidence).

1 Jul 2020, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: LPIN1 was added gene: LPIN1 was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LPIN1 were set to 28649549; 18817903; 32410653 Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive (MIM#268200) Review for gene: LPIN1 was set to AMBER