MFN2

PanelMode of inheritanceDetails
7 panels
R-numbers: R54
Signed-off version 2.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dominant optic atrophy plus
R-numbers: R78
Signed-off version 1.36
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Charcot Marie Tooth disease, type 2A2, 609260, Charcot-Marie-Tooth, Type 2 (Dominant), Hereditary motor and sensory neuropathy VI, 601152, MFN2 axonal neuropathy, Hereditary Motor and Sensory Neuropathy (Recessive)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 2A2, 609260, Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Disorders of mitochondrial DNA maintenance and integrity, Hereditary motor and sensory neuropathy VI, 601152
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Disorders of mitochondrial DNA maintenance and integrity, Charcot-Marie-Tooth disease, type 2A2, 609260, Hereditary motor and sensory neuropathy VI, 601152
R-numbers: R352
Signed-off version 1.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome, Optic atrophy plus
R-numbers: R41, R42.2
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Optic Atrophy, Hereditary motor and sensory neuropathy VIA, Charcot-Marie-Tooth disease, axonal, type 2A2A (AD), 609260, Charcot-Marie-Tooth disease, axonal, type 2A2B (AR), 617087, Hereditary motor and sensory neuropathy VIA (AD), 601152
R-numbers: R63
Signed-off version 1.17
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome, Optic atrophy plus