| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.50 | DNM1L | Bryony Thompson Marked gene: DNM1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.50 | DNM1L | Bryony Thompson Gene: dnm1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.50 | DNM1L | Bryony Thompson Classified gene: DNM1L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.50 | DNM1L | Bryony Thompson Gene: dnm1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.49 | DNM1L |
Bryony Thompson gene: DNM1L was added gene: DNM1L was added to Ataxia. Sources: Literature Mode of inheritance for gene: DNM1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNM1L were set to 41244260; 38481935; 36212643; 33718295; 31868880 Phenotypes for gene: DNM1L were set to encephalopathy due to mitochondrial and peroxisomal fission defect, MONDO:0054865 Review for gene: DNM1L was set to GREEN Added comment: Four papers (PMID 38481935, PMID 31868880, PMID 36212643, PMID 33718295) each report a single family with a heterozygous DNM1L missense variant and ataxia; PMID 41244260 aggregates 14 additional families with ataxia among a cohort of 66 DNM1L families, including six de novo missense variants and the recurrent p.Arg403Cys hotspot. In total 18 families (17 independent families with qualifying de novo or recurrent variants) demonstrate an autosomal dominant, dominant‑negative loss‑of‑function mechanism. Cellular assays show mitochondrial hyperfusion and loss of DRP1 protein, and mouse knockout and Drosophila models confirm impaired mitochondrial fission, although rescue experiments are lacking. This gene is relevant to the Ataxia panel because DNM1L‑related disease presents with progressive ataxia as a core feature within the neurology and neurodevelopmental disorder group. Sources: Literature |
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