EBF2

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 EBF2 gene was identified in a female, age 24, with global developmental delay, intellectual disability, brain abnormality (Arnold-Chiari type I malformation), overactive thyroid (hyperthyroidism), and brittle bones (osteopenia) (read full description).

Date of Report

Jun 15, 2021

Full Name

EBF transcription factor 2

Location

Chromosome 8p21.2

Function

The EBF2 gene codes for a transcription factor that plays a role in neural development and B-cell maturation (Wang et al., 2002).

Database Links

GeneCards: EBF2

NCBI Gene: 64641

OMIM: 609934

UniProtKB/Swiss-Prot: Q9HAK2

Clinical Significance

A de novo change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene EBF2

Inheritance Pattern Unknown

Position (hg19) chr8:g.25765991T>A

Transcript NM_022659.3

DNA Change c.632A>T

Protein Change p.Gln211Leu

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