SIX3 Chromosome 2
SIX homeobox 3
Upload your DNA to see your personal genotypes for variants in SIX3.
What This Gene Does
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. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
SINE class homeoboxes
Locus Type
gene with protein product
Location
2p21
Ensembl
ENSG00000138083
Associated Conditions (4)
Inborn genetic diseases
Holoprosencephaly 2
Schizencephaly
SIX3-related disorder
Key Variants
RS181010373
Conflicting classifications of pathogenicity
Inborn genetic diseases, Holoprosencephaly 2, Inborn genetic diseases
Health Risk
RS200331042
Conflicting classifications of pathogenicity
Holoprosencephaly 2, Holoprosencephaly 2
Health Risk
RS201922529
Conflicting classifications of pathogenicity
Holoprosencephaly 2, Holoprosencephaly 2
Health Risk
RS377320521
Conflicting classifications of pathogenicity
Holoprosencephaly 2, Inborn genetic diseases, Holoprosencephaly 2
Health Risk
RS537643024
Conflicting classifications of pathogenicity
Inborn genetic diseases, Holoprosencephaly 2, Inborn genetic diseases
Health Risk
RS555285206
Conflicting classifications of pathogenicity
Holoprosencephaly 2, Schizencephaly, Holoprosencephaly 2
Health Risk
RS760535753
Conflicting classifications of pathogenicity
Holoprosencephaly 2, Holoprosencephaly 2
Health Risk
RS768858586
Conflicting classifications of pathogenicity
Holoprosencephaly 2, Inborn genetic diseases, Holoprosencephaly 2
Health Risk
RS773045257
Conflicting classifications of pathogenicity
Holoprosencephaly 2, Inborn genetic diseases, Holoprosencephaly 2
Health Risk
RS778895549
Conflicting classifications of pathogenicity
Holoprosencephaly 2, Holoprosencephaly 2
Health Risk
RS779034696
Conflicting classifications of pathogenicity
Holoprosencephaly 2, Holoprosencephaly 2
Health Risk
RS1085307513
Likely pathogenic
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS181010373 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Holoprosencephaly 2, Inborn genetic diseases |
| RS200331042 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 2, Holoprosencephaly 2 |
| RS201922529 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 2, Holoprosencephaly 2 |
| RS377320521 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 2, Inborn genetic diseases, Holoprosencephaly 2 |
| RS537643024 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Holoprosencephaly 2, Inborn genetic diseases |
| RS555285206 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 2, Schizencephaly, Holoprosencephaly 2 |
| RS760535753 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 2, Holoprosencephaly 2 |
| RS768858586 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 2, Inborn genetic diseases, Holoprosencephaly 2 |
| RS773045257 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 2, Inborn genetic diseases, Holoprosencephaly 2 |
| RS778895549 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 2, Holoprosencephaly 2 |
| RS779034696 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 2, Holoprosencephaly 2 |
| RS1085307513 | Health Risk | Likely pathogenic | — |
| RS121917879 | Health Risk | Likely pathogenic | Holoprosencephaly 2, Holoprosencephaly 2 |
| RS1349107308 | Health Risk | Likely pathogenic | — |
| RS1553337590 | Health Risk | Likely pathogenic | — |
| RS1572624326 | Health Risk | Likely pathogenic | SIX3-related disorder, SIX3-related disorder |
| RS1666602075 | Health Risk | Likely pathogenic | — |
| RS1666605262 | Health Risk | Likely pathogenic | Holoprosencephaly 2, Holoprosencephaly 2 |
| RS2103642337 | Health Risk | Likely pathogenic | — |
| RS2466518337 | Health Risk | Likely pathogenic | — |
| RS121917878 | Health Risk | Pathogenic | Holoprosencephaly 2, Holoprosencephaly 2 |
| RS121917880 | Health Risk | Pathogenic | Holoprosencephaly 2, Holoprosencephaly 2 |
| RS137853021 | Health Risk | Pathogenic | Holoprosencephaly 2, Holoprosencephaly 2 |
| RS1553337648 | Health Risk | Pathogenic | — |
| RS1553337688 | Health Risk | Pathogenic | Holoprosencephaly 2, Holoprosencephaly 2 |
| RS1558420022 | Health Risk | Pathogenic | Holoprosencephaly 2, Holoprosencephaly 2 |
| RS1572624159 | Health Risk | Pathogenic | Holoprosencephaly 2, Holoprosencephaly 2 |
| RS2103641880 | Health Risk | Pathogenic | Holoprosencephaly 2, Holoprosencephaly 2 |
| RS2466513754 | Health Risk | Pathogenic | — |
| RS2466513762 | Health Risk | Pathogenic | Holoprosencephaly 2, Holoprosencephaly 2 |
| RS2466514157 | Health Risk | Pathogenic | Holoprosencephaly 2, Holoprosencephaly 2 |
| RS2466515122 | Health Risk | Pathogenic | — |
| RS387906867 | Health Risk | Pathogenic | Schizencephaly, Holoprosencephaly 2, Schizencephaly |
| RS397515502 | Health Risk | Pathogenic | Holoprosencephaly 2, Holoprosencephaly 2 |
| RS753473749 | Health Risk | Pathogenic | Holoprosencephaly 2, Holoprosencephaly 2 |
| RS886041560 | Health Risk | Pathogenic | — |
| RS1403385518 | Health Risk | Pathogenic/Likely pathogenic | Holoprosencephaly 2, Holoprosencephaly 2 |