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.

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 the EBF2 gene was identified in a female, age 29, 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	Inheritance	Position (hg19)	Transcript	DNA Change	Protein Change
EBF2	Unknown	chr8:g.25765991T>A	NM_022659.3	c.632A>T	p.Gln211Leu

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