MFN2

mitofusin 2
OMIM: 608507, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Red MFN2 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.45	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Amber MFN2 in Lipodystrophy - childhood onset Version 4.50 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Expert list Phenotypes Lipomatosis, multiple symmetric, with or without peripheral neuropathy, OMIM:151800 Tags Q3_23_promote_green Q3_23_NHS_review
Green MFN2 in Mitochondrial DNA maintenance disorder Version 3.6 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green 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 MFN2 in Optic neuropathy Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.30 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH Expert Review Green Expert Emory Genetics Laboratory 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
Red MFN2 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.31 Latest signed off version: v5.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red Expert list
Green MFN2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 MFN2 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green 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 MFN2 in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green 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 MFN2 in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MFN2-related developmental disorder
Green MFN2 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH NHS GMS London North GLH Expert Review Green Eligibility statement prior genetic testing Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Expert list Radboud University Medical Center, Nijmegen UKGTN 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 MFN2 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.169 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Expert list Expert 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 MFN2 in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260
Red MFN2 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.90 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources NHS GMS Expert Review Red Phenotypes Optic Atrophy Eye Disorders
Red MFN2 in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red 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 MFN2 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen South West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list London North GLH Illumina TruGenome Clinical Sequencing Services NHS GMS South West GLH NHS GMS London North GLH 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
Red MFN2 in Childhood onset dystonia, chorea or related movement disorder Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green MFN2 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Hereditary motor and sensory neuropathy VIA, 601152 Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260 Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087