Gene
DNM1L
dynamin 1L
- HGNC 2973(opens in a new tab)
- Ensembl gene ENSG00000087470(opens in a new tab)
- NCBI Gene 10059(opens in a new tab)
Summary
- Cytogenetic location
- 12p11.21
- Coordinates
- Chromosome 12: 32,679,301–32,745,650 (GRCh38)
- Exons
- 20 exons across 66.4 kb
- Protein
- 736 amino acids
- Also known as
- DRP1, DVLP, HDYNIV, DYMPLE, VPS1
- MANE Select transcript
- ENST00000549701.6NM_012062.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Hereditary Optic Neuropathy
- Hereditary Optic Atrophy
Inherited loss of optic nerve fibres, most often autosomal dominant optic atrophy caused by changes in OPA1, and including rarer types caused by OPA3, DNM1L, SSBP1 and other genes.
- 2 GenCC submitters rate it definitive or strong
How DNM1L is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.5 kb of the gene's 66.4 kb; 2,211 of those bases code for the protein.
How a genome test reads DNM1L
32
positions in DNM1L where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 66.4 kb of DNM1L, introns included, not only the 4.5 kb of exons.
Traits linked to DNM1L
The Human Phenotype Ontology lists these as features of the rare conditions DNM1L can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal CNS myelination
- Absent reflexes
- Aggressive behavior
- Bilateral tonic-clonic seizure with generalized onset
- Clonus
- Clumsiness
- Coma
- Communication delay
Show 63 more traits
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Degeneration of cerebellum
- Delayed ability to crawl
- Delayed ability to sit
- Delayed ability to stand
- Delayed CNS myelination
- Delayed motor skills
- Delayed speech and language development
- Difficulty articulating speech
- Diffuse cerebral atrophy
- Encephalopathy
- Epilepsia partialis continua
- Exaggerated startle response
- Focal T2 hyperintense thalamic lesion
- Gliosis
- Global developmental delay
- Increased reflexes
- Interictal epileptiform activity
- Involuntary writhing movements in fingers, hands, toes, and feet
- Jerking
- Loss of brain cells
- Myoclonic seizure
- Myoclonic status epilepticus
- Pain insensitivity
- Pauses in breathing while sleeping
- Peripheral demyelination
- Profound global developmental delay
- Reduced brain N-acetyl aspartate level by MRS
- Reduced cerebral white matter volume
- Refractory status epilepticus
- Repeated seizures without recovery between them
- Seizure affecting one half of brain
- Self-biting
- Subcortical cerebral atrophy
- Tetraparesis
- Thin corpus callosum
- Tremor
- Twitching
- Absent speech development
- Brain imaging abnormality
- EEG abnormality
- Elevated brain lactate level by MRS
- Epilepsy
- Inability to walk
- Loss of developmental milestones
- Nerve damage causing decreased feeling and movement
- Abnormal gait
- Ataxia
- Difficulty finding words
- Dystonia
- Focal impaired awareness seizure
- Generalized myoclonic seizure
- Grand mal seizures
- Hyperactive deep tendon reflexes
- Oculogyric crisis
- Abnormal periventricular white matter morphology
- Atrophy/Degeneration affecting the brainstem
- Cognitive impairment
- Corpus callosum atrophy
- Dementia
- Hallucinations
- Migraine
- Weakness of one side of body
Abnormality of the eye
- Abnormal visual fixation
- Abnormality of pattern visual evoked potentials
- Blue outer white part of eyeball
- Deeply set eye
- Drooping of both upper eyelids
- Horizontal nystagmus
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
Show 15 more traits
- Optic disc pallor
- Visual impairment
- Abnormal color vision
- Blind spot located at fixation point
- Eye muscle paralysis
- Limited peripheral vision
- Moderate visual impairment
- Morning glory anomaly
- Temporal optic disc pallor
- Cross-eyed
- Drooping upper eyelid
- Clouding of the lens of the eye
- Duane anomaly
- Blue yellow color blindness
- Slow decrease in sharpness of vision
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). DNM1L gene: dynamin 1L. Retrieved 16 October 2026, from https://dantelabs.com/genes/dnm1l
Dante Labs. DNM1L gene: dynamin 1L [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dnm1l
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