FDX2

PanelMode of inheritanceDetails
4 panels
R-numbers: R419
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, OMIM:251900
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
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:
  • - White matter disorders - childhood onset
Signed-off version 3.1
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 2.2
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