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SIX5

Synonyms
BOR2, DMAHP
External resources
Summary
The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2.

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
1,612
Likely benign
2,085
Benign
1,600

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SIX5 gene.

Phenotype class
Patients in 3billion (%)

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