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  3. LPIN1
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Rhabdomyolysis and metabolic muscle disorders

Gene: LPIN1

Green List (high evidence)
LPIN1 (lipin 1)
EnsemblGeneIds (GRCh38): ENSG00000134324
EnsemblGeneIds (GRCh37): ENSG00000134324
OMIM: 605518, Gene2Phenotype
LPIN1 is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least five variants reported in two homozygotes and three compound heterozygotes
Created: 5 Dec 2016, 11:07 a.m.
Created: 5 Dec 2016, 11:07 a.m.

Panel version: 0.73

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myoglobinuria, acute recurrent, autosomal recessive 268200
OMIM
605518
Clinvar variants
Variants in LPIN1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

5 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Dec 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

LPIN1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Literature

1 Dec 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive 268200

24 Nov 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

LPIN1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN

27 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LPIN1 was changed to BIALLELIC, autosomal or pseudoautosomal

27 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

LPIN1 was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Emory Genetics Laboratory

27 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LPIN1 was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Illumina TruGenome Clinical Sequencing Services