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SIX3

Synonyms
HPE2
External resources
Summary
This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly 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
275
Likely benign
230
Benign
424

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SIX3 gene.

Phenotype class
Patients in 3billion (%)

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