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Hereditary neuropathy v1.447 MFN2 Arina Puzriakova Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth, Type 2 (Dominant); MFN2 axonal neuropathy; MFN2 axonal neuropathy; Charcot-Marie-Tooth, Type 2 (Dominant); Charcot Marie Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152; Hereditary motor and sensory neuropathy VI, 601152; Hereditary Motor and Sensory Neuropathy (Recessive); Hereditary Motor and Sensory Neuropathy (Recessive) to 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
Hereditary neuropathy v1.80 MFN2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 MFN2 Louise Daugherty commented on gene: MFN2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.66 MFN2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.66 MFN2 Louise Daugherty Added comment: Comment on phenotypes: Charcot-Marie-Tooth, Type 2 (Dominant);MFN2 axonal neuropathy;MFN2 axonal neuropathy ;Charcot-Marie-Tooth, Type 2 (Dominant);Charcot Marie Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152;Hereditary motor and sensory neuropathy VI, 601152; Hereditary Motor and Sensory Neuropathy (Recessive);Hereditary Motor and Sensory Neuropathy (Recessive)
Hereditary neuropathy v1.66 MFN2 Louise Daugherty Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth, Type 2 (Dominant); MFN2 axonal neuropathy; other; other; MFN2 axonal neuropathy ; Charcot-Marie-Tooth, Type 2 (Dominant); Charcot Marie Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152; Hereditary motor and sensory neuropathy VI, 601152; Hereditary Motor and Sensory Neuropathy (Recessive); Hereditary Motor and Sensory Neuropathy (Recessive) to Charcot-Marie-Tooth, Type 2 (Dominant); MFN2 axonal neuropathy; MFN2 axonal neuropathy; Charcot-Marie-Tooth, Type 2 (Dominant); Charcot Marie Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152; Hereditary motor and sensory neuropathy VI, 601152; Hereditary Motor and Sensory Neuropathy (Recessive); Hereditary Motor and Sensory Neuropathy (Recessive)
Hereditary neuropathy v1.63 MFN2 Louise Daugherty commented on gene: MFN2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.60 MFN2 Louise Daugherty Added phenotypes MFN2 axonal neuropathy; other; Charcot-Marie-Tooth, Type 2 (Dominant); Charcot Marie Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152; Hereditary Motor and Sensory Neuropathy (Recessive) for gene: MFN2
Hereditary neuropathy v1.58 MFN2 Natalie Forrester reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot Marie Tooth disease, type 2A2, 609260, Hereditary motor and sensory neuropathy VI, 601152, other, Charcot-Marie-Tooth, Type 2 (Dominant), Hereditary Motor and Sensory Neuropathy (Recessive), MFN2 axonal neuropathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.56 MFN2 Louise Daugherty Source South West GLH was added to MFN2.
Hereditary neuropathy v1.55 MFN2 Louise Daugherty reviewed gene: MFN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 MFN2 James Polke reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.51 MFN2 Louise Daugherty Source NHS GMS was added to MFN2.
Hereditary neuropathy v1.50 MFN2 Louise Daugherty Source London North GLH was added to MFN2.
Rating Changed from Green List (high evidence) to Green List (high evidence)