BCL11B

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 BCL11B 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 04, 2026

Full Name

BCL11 transcription factor B

Location

Chromosome 14q32.2

Function

The BCL11B gene codes for a transcription factor that is involved in hematopoietic progenitor cell development (Punwani et al. 2016).

Database Links

GeneCards: BCL11B

NCBI Gene: 64919

OMIM: 606558

UniProtKB/Swiss-Prot: Q9C0K0

Clinical Significance

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

Gene BCL11B

Inheritance Pattern Autosomal dominant

Position (hg19) g.99641218_99641239del

Transcript NC_000014.8

DNA Change c.1944_1965del

Protein Change p.G649Afs*67

Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!