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| Hereditary Neuropathy v2.63 | DNM1L | Zornitza Stark Marked gene: DNM1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.63 | DNM1L | Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.51 | DNM1L | Sangavi Sivagnanasundram Classified gene: DNM1L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.51 | DNM1L | Sangavi Sivagnanasundram Gene: dnm1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.50 | DNM1L |
Sangavi Sivagnanasundram gene: DNM1L was added gene: DNM1L was added to Hereditary Neuropathy. 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: >5 unrelated probands reported with an early-onset (0-10 years of age) neurodevelopmental disorder characterised by peripheral sensory neuropathy, developmental delay, seizures, spasticity, ataxia and optic atrophy. One individual reported in 36212643 presented with neuropathy at the age of 32; however, other features were present from birth. 33718295 - reported a case with a rare de novo heterozygous missense variant in DNM1L Functional studies showed mitochondrial hyperfusion, reduced GTPase activity and decreased DNM1L protein. Sources: Literature |
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