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| Mendeliome v1.4874 | NEFM | Chirag Patel Marked gene: NEFM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4874 | NEFM | Chirag Patel Gene: nefm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4874 | NEFM |
Chirag Patel gene: NEFM was added gene: NEFM was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NEFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEFM were set to 41913087 Phenotypes for gene: NEFM were set to Cerebellar ataxia, MONDO:0000437 Review for gene: NEFM was set to RED Added comment: 2 individuals from 1 family with compound heterozygous rare missense variants in NEFM, which encodes for a neurofilament protein. They presented with pure cerebellar ataxia (post-puberty onset of dysmetria of upper and lower limbs, speech ataxia, wide-based stance, and gait oscillations). The variants segregated within the family. Evidence is supported by in silico analysis predicting dysregulation of phosphorylation sites, though experimental functional validation of the patient variants was not performed. Sources: Literature |
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