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| Hereditary neuropathy or pain disorder v5.106 | MFF | Achchuthan Shanmugasundram Classified gene: MFF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.106 | MFF | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are only two patients reported with neuropathy so far. Hence, this gene should be rated amber with current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.106 | MFF | Achchuthan Shanmugasundram Gene: mff has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.105 | MFF | Achchuthan Shanmugasundram Phenotypes for gene: MFF were changed from encephalopathy; developmental delay; peripheral neuropathy in some to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, OMIM:617086 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.104 | MFF | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.104 | MFF |
Achchuthan Shanmugasundram commented on gene: MFF: PMID:26783368 reported three patients from two unrelated families with EMPF2 and with biallelic MFF variants. Patient 1 (an Austrian boy) was identified with compound heterozygous variants (p.Leu62Profs*13; p.Arg298Ter) and had mixed form of peripheral neuropathy shown on compound muscle action potential. Patient 3 (one of two Turkish siblings) had phenotype consistent with demyelinating peripheral neuropathy, which was absent in his brother. They had homozygous p.Glu153Alafs*5 variants. Although EMPF2 was reported in other patients (PMIDs: 22499341; 32181496; 34750646), neuropathy was not reported in them. |
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| Hereditary neuropathy or pain disorder v5.104 | MFF | Achchuthan Shanmugasundram reviewed gene: MFF: Rating: AMBER; Mode of pathogenicity: None; Publications: 26783368; Phenotypes: Encephalopathy due to defective mitochondrial and peroxisomal fission 2, OMIM:617086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | MFF |
Alexander Rossor gene: MFF was added gene: MFF was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFF were set to 26783368 Phenotypes for gene: MFF were set to encephalopathy; developmental delay; peripheral neuropathy in some Penetrance for gene: MFF were set to Complete Review for gene: MFF was set to GREEN Added comment: Sources: Expert list |
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