LPIN1

PanelMode of inheritanceDetails
4 panels
R-numbers: R419
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myoglobinuria, acute recurrent, autosomal recessive, OMIM:268200
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
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
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