DNM1 Chromosome 9
Dynamin 1
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What This Gene Does
This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Dynamins"
Locus Type
gene with protein product
Location
9q34.11
Ensembl
ENSG00000106976
Associated Conditions (10)
Developmental and epileptic encephalopathy
31A
DNM1-related disorder
Inborn genetic diseases
31B
West syndrome
Lennox-Gastaut syndrome
Seizure
1
6 conditions
Key Variants
RS1052613908
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
Health Risk
RS1057524561
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, DNM1-related disorder
Health Risk
RS1131692025
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
Health Risk
RS1196657001
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
Health Risk
RS1280163668
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
Health Risk
RS138053929
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, Inborn genetic diseases
Health Risk
RS138357499
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
Health Risk
RS1432815882
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
Health Risk
RS1437208936
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
Health Risk
RS1456731322
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
Health Risk
RS1486970211
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 31A
Health Risk
RS1554772974
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy
Health Risk
All Variants (96)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554772945 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS1554781545 | Health Risk | Likely pathogenic | — |
| RS1554781553 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS1588352395 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS1834792032 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS1835085404 | Health Risk | Likely pathogenic | — |
| RS1835085971 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS1835103161 | Health Risk | Likely pathogenic | — |
| RS2131283599 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS2131299485 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS2538974447 | Health Risk | Likely pathogenic | DNM1-related disorder, DNM1-related disorder |
| RS2538976259 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS2538979366 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS2539114371 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS587777862 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS754404446 | Health Risk | Likely pathogenic | — |
| RS1458807270 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 31B, Developmental and epileptic encephalopathy |
| RS1554772913 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 31A, Inborn genetic diseases |
| RS1554773487 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554774401 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS1554774575 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS1554774587 | Health Risk | Pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 31A |
| RS1554774708 | Health Risk | Pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 31A |
| RS1564332930 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS1588368432 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 31B, Developmental and epileptic encephalopathy |
| RS1829434336 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS1833622746 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS2131158061 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS2131297826 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS2538974505 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS2538976726 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 31B, Developmental and epileptic encephalopathy |
| RS2538983876 | Health Risk | Pathogenic | West syndrome, Lennox-Gastaut syndrome, West syndrome |
| RS2538998903 | Health Risk | Pathogenic | — |
| RS2539074151 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS587777860 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS587777861 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS747024881 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS760270633 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 31A, Inborn genetic diseases |
| RS1131691877 | Health Risk | Pathogenic/Likely pathogenic | Seizure, Seizure |
| RS1554767313 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 31A |
| RS1554767317 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 31A |
| RS1554772959 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS2131175203 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS2538984042 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 31A, Developmental and epileptic encephalopathy |
| RS747079285 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 31A, 1 |
| RS869312702 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 31A, 6 conditions |