CHASERR

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.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in this gene was identified in a female, age 5, with brain abnormalities, flow of urine from bladder to kidneys (vesicoureteral reflux), global developmental delay and atrial septal defect (read full description).

Date of Report

Sep 28, 2021

Full Name

CHD2 adjacent suppressive regulatory RNA

Location

Chromosome 15 (15q26.1)

Function

The CHASERR gene (previously known as the LINC01578 gene) is a non-coding RNA gene that has been shown to regulate the nearby CHD2 gene. In particular, decreased expression of CHASERR has been found to increase CHD2 expression (Rom et al. 2019).

Database Links

GeneCards: CHASERR

NCBI Gene: 100507217

Clinical Significance

The following de novo genetic change was identified, which is hypothesized to be causing symptoms in a UDN participant by increasing expression of CHD2.

Gene CHASERR (previously known as LINC01578)

Inheritance Pattern Autosomal dominant

Position (hg19) chr15:g.93954496_ 93976911del

Transcript NC_000015.9

DNA Change 22kbp deletion

Protein Change N/A

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