FDX2

PanelMode of inheritanceDetails
5 panels
R-numbers: R419
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, OMIM:251900
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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900, mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900, mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900, mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900, mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714