LPIN1

PanelMode of inheritanceDetails
4 panels
R-numbers: R419
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myoglobinuria, acute recurrent, autosomal recessive, OMIM:268200
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myoglobinuria, acute recurrent, autosomal recessive
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.24
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myoglobinuria, acute recurrent, autosomal recessive, 268200, myoglobinuria, exercise induced myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.39
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myoglobinuria, acute recurrent, autosomal recessive 268200