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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) |
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