Acute rhabdomyolysis
Gene: LPIN1
LPIN1 (lipin 1)
EnsemblGeneIds (GRCh38): ENSG00000134324
EnsemblGeneIds (GRCh37): ENSG00000134324
OMIM: 605518, Gene2Phenotype
LPIN1 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000134324
EnsemblGeneIds (GRCh37): ENSG00000134324
OMIM: 605518, Gene2Phenotype
LPIN1 is in 8 panels
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Myoglobinuria, acute recurrent, autosomal recessive, OMIM:268200
- OMIM
- 605518
- Clinvar variants
- Variants in LPIN1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hyperammonaemia
- Acute rhabdomyolysis
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
History Filter Activity
19 Jan 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: LPIN1 was added gene: LPIN1 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LPIN1 were set to 25929793; 18817903; 33514355 Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive, OMIM:268200