RNF13

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 male, age 24, with seizures, skeletal differences (Madelung deformity, scoliosis, pectus excavatum, club foot), and global developmental delay (read full description).

Date of Report

Nov 19, 2019

Full Name

ring finger protein 13

Location

Chromosome 3 (3q25.1)

Function

The RNF13 gene codes for a protein in the PA-TM-RING protein family. It associates with and promotes activation of IRE1a and is an important mediator of endoplasmic reticulum (ER) stress response and the apoptosis pathway (Edvardson et al., 2019).

Database Links

GeneCards: RNF13

NCBI Gene: 11342

OMIM: 609247

UniProtKB/Swiss-Prot: O43567

Clinical Significance

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

Changes in this gene have also been associated with Epileptic encephalopathy, early infantile, 73 (OMIM 618379).

Gene	Inheritance	Position (hg19)	Transcript	DNA Change	Protein Change
RNF13	Autosomal dominant	chr3:g.149678664G>T	NM_007282.4	c.919G>T	p.Glu307Ter

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