SLC25A42

solute carrier family 25 member 42
OMIM: 610823
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416, mitochondrial myopathy
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
mitochondrial myopathy, Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416