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DNM1L

Synonyms
DLP1, DRP1, DVLP, DYMPLE, EMPF, EMPF1, HDYNIV, OPA5
External resources
Summary
This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimer's disease. Mutations in this gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different isoforms.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
11
Likely pathogenic
5
VUS
4,127
Likely benign
613
Benign
629

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on DNM1L gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.7%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the cardiovascular system
26.7%
Abnormality of head or neck
20%
Abnormality of limbs
20%
Abnormality of the ear
20%
Growth abnormality
20%
Abnormality of the eye
13.3%
Abnormality of the immune system
13.3%
Abnormality of the integument
13.3%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of the digestive system
6.7%
Abnormality of the genitourinary system
6.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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