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| Likely inborn error of metabolism - targeted testing not possible v2.244 | MFN2 | Arina Puzriakova Phenotypes for gene: MFN2 were changed from 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 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | MFN2 |
Ivone Leong Source NHS GMS was added to MFN2. Source London North GLH was added to MFN2. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | MFN2 |
Ellen McDonagh Added 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 for gene: MFN2 Publications for gene MFN2 were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | MFN2 |
Ellen McDonagh gene: MFN2 was added gene: MFN2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MFN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, type 2A2, 609260; Disorders of mitochondrial DNA maintenance and integrity; Hereditary motor and sensory neuropathy VI, 601152 |
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