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| Hereditary Spastic Paraplegia v2.59 | DNM1L | Bryony Thompson Marked gene: DNM1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.59 | DNM1L | Bryony Thompson Gene: dnm1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.59 | DNM1L | Bryony Thompson Classified gene: DNM1L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.59 | DNM1L | Bryony Thompson Gene: dnm1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.58 | DNM1L |
Bryony Thompson gene: DNM1L was added gene: DNM1L was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: DNM1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNM1L were set to 41008537; 40322871; 39063023; 36212643 Phenotypes for gene: DNM1L were set to Mitochondrial disease, MONDO:0044970; encephalopathy due to mitochondrial and peroxisomal fission defect, MONDO:0054865 Review for gene: DNM1L was set to GREEN Added comment: DNM1L encodes a mitochondrial fission GTPase; pathogenic variants cause both hereditary spastic paraplegia and encephalopathy due to mitochondrial and peroxisomal fission defects. Functional studies demonstrate loss of DNM1L protein and abnormal mitochondrial/peroxisomal morphology. Sources: Literature |
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