SIX6 Chromosome 14
SIX homeobox 6
Upload your DNA to see your personal genotypes for variants in SIX6.
What This Gene Does
The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
SINE class homeoboxes
Locus Type
gene with protein product
Location
14q23.1
Ensembl
ENSG00000184302
Associated Conditions (9)
Anophthalmia-microphthalmia syndrome
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Anophthalmia/microphthalmia-esophageal atresia syndrome
SIX6-related disorder
See cases
Nystagmus
Microcornea
Developmental cataract
Sclerocornea
Key Variants
RS140601427
Conflicting classifications of pathogenicity
Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
Health Risk
RS146737847
Conflicting classifications of pathogenicity
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia-microphthalmia syndrome
Health Risk
RS150715226
Conflicting classifications of pathogenicity
Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
Health Risk
RS200537449
Conflicting classifications of pathogenicity
Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
Health Risk
RS201560655
Conflicting classifications of pathogenicity
Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
Health Risk
RS368912930
Conflicting classifications of pathogenicity
Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
Health Risk
RS45549246
Conflicting classifications of pathogenicity
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, Anophthalmia-microphthalmia syndrome, Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Health Risk
RS749617848
Conflicting classifications of pathogenicity
Health Risk
RS770759922
Conflicting classifications of pathogenicity
Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
Health Risk
RS1310548000
Likely pathogenic
See cases, See cases
Health Risk
RS2503605066
Likely pathogenic
Health Risk
RS748077751
Likely pathogenic
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140601427 | Health Risk | Conflicting classifications of pathogenicity | Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome |
| RS146737847 | Health Risk | Conflicting classifications of pathogenicity | Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia-microphthalmia syndrome |
| RS150715226 | Health Risk | Conflicting classifications of pathogenicity | Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome |
| RS200537449 | Health Risk | Conflicting classifications of pathogenicity | Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome |
| RS201560655 | Health Risk | Conflicting classifications of pathogenicity | Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome |
| RS368912930 | Health Risk | Conflicting classifications of pathogenicity | Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome |
| RS45549246 | Health Risk | Conflicting classifications of pathogenicity | Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, Anophthalmia-microphthalmia syndrome, Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome |
| RS749617848 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770759922 | Health Risk | Conflicting classifications of pathogenicity | Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome |
| RS1310548000 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2503605066 | Health Risk | Likely pathogenic | — |
| RS748077751 | Health Risk | Likely pathogenic | Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome |
| RS786205142 | Health Risk | Likely pathogenic | Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome |
| RS1594631582 | Health Risk | Pathogenic | Nystagmus, Microcornea, Developmental cataract |
| RS786204851 | Health Risk | Pathogenic | Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome |