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Inborn errors of metabolism

Gene: LPIN1

Green List (high evidence)

LPIN1 (lipin 1)
EnsemblGeneIds (GRCh38): ENSG00000134324
EnsemblGeneIds (GRCh37): ENSG00000134324
OMIM: 605518, Gene2Phenotype
LPIN1 is in 7 panels

2 reviews

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhabdomyolysis and metabolic muscle disorders

Publications

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: 17 Jan 2017, 9:42 a.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhabdomyolysis and metabolic muscle disorders

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Myoglobinuria, acute recurrent, autosomal recessive
OMIM
605518
Clinvar variants
Variants in LPIN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to LPIN1. Source London North GLH was added to LPIN1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: LPIN1 was added gene: LPIN1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LPIN1 were set to 27604308 Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive