| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.87 | MFF | Bryony Thompson Marked gene: MFF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.87 | MFF | Bryony Thompson Gene: mff has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.87 | MFF | Bryony Thompson Classified gene: MFF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.87 | MFF | Bryony Thompson Gene: mff has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.86 | MFF |
Bryony Thompson gene: MFF was added gene: MFF was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFF were set to 32181496; 26783368 Phenotypes for gene: MFF were set to encephalopathy due to defective mitochondrial and peroxisomal fission 2, MONDO:0014905 Review for gene: MFF was set to GREEN Added comment: PMID 32181496 reports a single Indian child with a homozygous nonsense MFF variant (c.433C>T) presenting with infancy‑onset neurodevelopmental disorder characterised by spasticity, microcephaly, optic atrophy and hearing impairment. PMID 26783368 describes four patients from three families with biallelic loss‑of‑function MFF variants who exhibit early‑onset seizures, developmental delay, spasticity, microcephaly, optic atrophy, peripheral neuropathy and Leigh‑like basal ganglia changes. Sources: Literature |
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