TOMM70

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 this gene was identified in a female, age 8, with global developmental delay, hypotonia, a movement disorder, and brain abnormalities (hypomyelination, cerebellar atrophy) (read full description).

Date of Report

Jul 09, 2020

Full Name

Translocase of outer mitochondrial membrane 70

Location

Chromosome 3 (3q12.2)

Function

The TOMM70 gene codes for a mitochondrial membrane complex protein involved in the transport of molecules into the mitochondria (Alvarez-Dolado et al. 1999).

Database Links

GeneCards: TOMM70

NCBI Gene: 9868

OMIM: 606081

UniProtKB/Swiss-Prot: O94826

Clinical Significance

A de novo change in this gene was identified in a UDN participant.

Gene TOMM70

Inheritance Pattern Unknown

Position (hg19) chr3:g.100084415G>A

Transcript NM_014820.4

DNA Change c.1820C>T

Protein Change p.Thr607Ile

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