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OLIG2

Synonyms
BHLHB1, OLIGO2, PRKCBP2, RACK17, bHLHe19
External resources
Summary
This gene encodes a basic helix-loop-helix transcription factor which is expressed in oligodendroglial tumors of the brain. The protein is an essential regulator of ventral neuroectodermal progenitor cell fate. The gene is involved in a chromosomal translocation t(14;21)(q11.2;q22) associated with T-cell acute lymphoblastic leukemia. Its chromosomal location is within a region of chromosome 21 which has been suggested to play a role in learning deficits associated with Down syndrome.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
514
Likely benign
179
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on OLIG2 gene.

Phenotype class
Patients in 3billion (%)

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