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  2. Rhabdomyolysis and Metabolic Myopathy
  3. LPIN1
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Rhabdomyolysis and Metabolic Myopathy

Gene: LPIN1

Green List (high 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)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 1 Jul 2020, 7:43 a.m.
Last Modified: 1 Jul 2020, 7:43 a.m.
Panel version: 0.56

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants reported in>5 families. Rhabdomyolysis is a significant feature.
Created: 1 Jul 2020, 12:39 a.m. | Last Modified: 1 Jul 2020, 12:39 a.m.
Panel Version: 0.184

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 1 Jul 2020, 12:39 a.m.
Last Modified: 1 Jul 2020, 12:39 a.m.
Panel version: Imported from Rhabdomyolysis panel version 0.184

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 Superpanel panel version 0.24

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Myoglobinuria, acute recurrent, autosomal recessive 268200
OMIM
605518
Clinvar variants
Variants in LPIN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lpin1 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LPIN1 were set to

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LPIN1 was added gene: LPIN1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive 268200