Genomics England

MFN2

mitofusin 2

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes MFN2-related developmental disorder
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 4.11	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087, Hereditary motor and sensory neuropathy VIA, OMIM:601152
Green in Likely inborn error of metabolism 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 5.6	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087, Hereditary motor and sensory neuropathy VIA, OMIM:601152
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087, Hereditary motor and sensory neuropathy VIA, OMIM:601152
Green in Mitochondrial DNA maintenance disorder R-numbers: R352 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087, Hereditary motor and sensory neuropathy VIA, OMIM:601152
Green in Optic neuropathy R-numbers: R41 Signed-off version 4.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087, Hereditary motor and sensory neuropathy VIA, OMIM:601152
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087, Hereditary motor and sensory neuropathy VIA, OMIM:601152
Green in Severe insulin resistance and lipodystrophy syndromes R-numbers: R158 Signed-off version 4.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Lipomatosis, multiple symmetric, with or without peripheral neuropathy, OMIM:151800