Genomics England
GMS Panels
Panels
Genes and Entities

LPIN1

lipin 1
OMIM: 605518
PanelMode of inheritanceDetails
4 panels
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myoglobinuria, acute recurrent, autosomal recessive, OMIM:268200
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myoglobinuria, acute recurrent, autosomal recessive
Green
in Limb girdle muscular dystrophy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myoglobinuria, acute recurrent, autosomal recessive, 268200, myoglobinuria, exercise induced myopathy
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myoglobinuria, acute recurrent, autosomal recessive 268200