DNM1L

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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A change in the DNM1L gene was identified in a female, age 20, with dopamine deficiency and damaged nerves in her hands and feet (peripheral neuropathy) (read full description).

Date of Report

Apr 11, 2022

Full Name

Dynamin 1-Like

Location

Chromosome 12 (12p11.21)

Function

The DNM1L gene mediates membrane remodeling and has an important role in mitochondria fission (Pitts et al., 2004).

Database Links

GeneCards: DNM1L

NCBI Gene: 10059

OMIM: 603850

UniProtKB/Swiss-Prot: O00429

Clinical Significance

A change in this gene was identified in a UDN participant. The change was inherited from a mosaic, unaffected parent.

Gene DNM1L

Inheritance Pattern Unknown

Position (hg19) chr12:g.32895625_32895627del

Transcript NM_012062.3

DNA Change c.2097_2099delTCT

Protein Change p.Leu700del

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