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BHLHE22

Synonyms
BHLHB5, Beta3, Beta3a, CAGL85, TNRC20
External resources
Summary
This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. A similar protein in mouse is required for the development of the dorsal cochlear nuclei, and is thought to play a role in in the differentiation of neurons involved in sensory input. The mouse protein also functions in retinogenesis.

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
1,724
Likely benign
388
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on BHLHE22 gene.

Phenotype class
Patients in 3billion (%)

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