DNM1L Chromosome 12
Dynamin 1 like
Upload your DNA to see your personal genotypes for variants in DNM1L.
What This Gene Does
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. [provided by RefSeq, Jun 2013]
Gene Info
Gene Group
Dynamin superfamily
Locus Type
gene with protein product
Location
12p11.21
Ensembl
ENSG00000087470
Associated Conditions (11)
Encephalopathy
lethal
due to defective mitochondrial peroxisomal fission 1
Inborn genetic diseases
Familial cancer of breast
See cases
Mitochondrial disease
DNM1L-related disorder
Obesity
DNM1L-related movement disorder
Optic atrophy 5
Key Variants
RS138133550
Conflicting classifications of pathogenicity
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Health Risk
RS138620818
Conflicting classifications of pathogenicity
Health Risk
RS146565893
Conflicting classifications of pathogenicity
Health Risk
RS149256584
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS150170255
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1555229978
Conflicting classifications of pathogenicity
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Health Risk
RS1952997134
Conflicting classifications of pathogenicity
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Health Risk
RS201894145
Conflicting classifications of pathogenicity
Health Risk
RS2137424964
Conflicting classifications of pathogenicity
Mitochondrial disease, Mitochondrial disease
Health Risk
RS374173514
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS558306648
Conflicting classifications of pathogenicity
DNM1L-related disorder, DNM1L-related disorder
Health Risk
RS745921568
Conflicting classifications of pathogenicity
Obesity, Obesity
Health Risk
All Variants (70)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138133550 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 |
| RS138620818 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146565893 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149256584 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS150170255 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1555229978 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 |
| RS1952997134 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 |
| RS201894145 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2137424964 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial disease, Mitochondrial disease |
| RS374173514 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS558306648 | Health Risk | Conflicting classifications of pathogenicity | DNM1L-related disorder, DNM1L-related disorder |
| RS745921568 | Health Risk | Conflicting classifications of pathogenicity | Obesity, Obesity |
| RS746096174 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746248565 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS764711165 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767021397 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769118365 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769177492 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS879255688 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 |
| RS984565210 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 |
| RS1057518694 | Health Risk | Likely pathogenic | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 |
| RS1057523007 | Health Risk | Likely pathogenic | — |
| RS1316999302 | Health Risk | Likely pathogenic | Mitochondrial disease, DNM1L-related disorder, Mitochondrial disease |
| RS1592661947 | Health Risk | Likely pathogenic | — |
| RS1592661973 | Health Risk | Likely pathogenic | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 |
| RS1952694899 | Health Risk | Likely pathogenic | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 |
| RS1954520736 | Health Risk | Likely pathogenic | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 |
| RS1954544114 | Health Risk | Likely pathogenic | Inborn genetic diseases, Encephalopathy, lethal |
| RS2137302207 | Health Risk | Likely pathogenic | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 |
| RS2137372686 | Health Risk | Likely pathogenic | — |
| RS2137445950 | Health Risk | Likely pathogenic | — |
| RS2137520923 | Health Risk | Likely pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS2137520997 | Health Risk | Likely pathogenic | — |
| RS2137612089 | Health Risk | Likely pathogenic | DNM1L-related movement disorder, DNM1L-related movement disorder |
| RS2137612346 | Health Risk | Likely pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS2540993380 | Health Risk | Likely pathogenic | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 |
| RS2540998650 | Health Risk | Likely pathogenic | — |
| RS2541000749 | Health Risk | Likely pathogenic | — |
| RS2541008031 | Health Risk | Likely pathogenic | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 |
| RS2541008058 | Health Risk | Likely pathogenic | — |
| RS2541045553 | Health Risk | Likely pathogenic | — |
| RS2541046070 | Health Risk | Likely pathogenic | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 |
| RS2541080714 | Health Risk | Likely pathogenic | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 |
| RS2541091574 | Health Risk | Likely pathogenic | — |
| RS2541110091 | Health Risk | Likely pathogenic | — |
| RS2541139199 | Health Risk | Likely pathogenic | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 |
| RS769684495 | Health Risk | Likely pathogenic | Optic atrophy 5, Encephalopathy, lethal |
| RS879253874 | Health Risk | Likely pathogenic | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 |
| RS879255685 | Health Risk | Likely pathogenic | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 |
| RS1064794656 | Health Risk | Pathogenic | Optic atrophy 5, Optic atrophy 5 |