PNPLA8

patatin like phospholipase domain containing 8
OMIM: 612123
PanelMode of inheritanceDetails
4 panels
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial myopathy with lactic acidosis, OMIM:251950
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
?Mitochondrial myopathy with lactic acidosis, 251950
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.114
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial myopathy with lactic acidosis, 251950
R-numbers: R63
Signed-off version 3.69
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial myopathy with lactic acidosis, 251950