SIX1 Chromosome 14
SIX homeobox 1
Upload your DNA to see your personal genotypes for variants in SIX1.
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 limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
SINE class homeoboxes
Locus Type
gene with protein product
Location
14q23.1
Ensembl
ENSG00000126778
Associated Conditions (10)
Branchiootic syndrome 3
Autosomal dominant nonsyndromic hearing loss 23
Branchiootorenal syndrome 1
SIX1-related disorder
Branchiootic syndrome
Inborn genetic diseases
Branchiootic syndrome 1
Hearing impairment
Autosomal dominant nonsyndromic hearing loss
Melnick-Fraser syndrome
Key Variants
RS104894478
Conflicting classifications of pathogenicity
Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Branchiootorenal syndrome 1
Health Risk
RS1051653507
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Hearing impairment
Health Risk
RS1168903423
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23
Health Risk
RS1181935324
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23
Health Risk
RS142301715
Conflicting classifications of pathogenicity
Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, SIX1-related disorder
Health Risk
RS144481204
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23
Health Risk
RS151189392
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23
Health Risk
RS1555366309
Conflicting classifications of pathogenicity
Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3
Health Risk
RS1895013419
Conflicting classifications of pathogenicity
Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3
Health Risk
RS2140240984
Conflicting classifications of pathogenicity
Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Inborn genetic diseases
Health Risk
RS2140241012
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23
Health Risk
RS2502643946
Conflicting classifications of pathogenicity
Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894478 | Health Risk | Conflicting classifications of pathogenicity | Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Branchiootorenal syndrome 1 |
| RS1051653507 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Hearing impairment |
| RS1168903423 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23 |
| RS1181935324 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23 |
| RS142301715 | Health Risk | Conflicting classifications of pathogenicity | Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, SIX1-related disorder |
| RS144481204 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23 |
| RS151189392 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23 |
| RS1555366309 | Health Risk | Conflicting classifications of pathogenicity | Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3 |
| RS1895013419 | Health Risk | Conflicting classifications of pathogenicity | Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3 |
| RS2140240984 | Health Risk | Conflicting classifications of pathogenicity | Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Inborn genetic diseases |
| RS2140241012 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23 |
| RS2502643946 | Health Risk | Conflicting classifications of pathogenicity | Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3 |
| RS368974927 | Health Risk | Conflicting classifications of pathogenicity | Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, SIX1-related disorder |
| RS571997198 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23 |
| RS73309461 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, SIX1-related disorder |
| RS747379649 | Health Risk | Conflicting classifications of pathogenicity | Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3 |
| RS1060499595 | Health Risk | Likely pathogenic | Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3 |
| RS1064794308 | Health Risk | Likely pathogenic | Branchiootic syndrome 3, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23 |
| RS1895001312 | Health Risk | Likely pathogenic | Branchiootic syndrome 3, Branchiootic syndrome 3 |
| RS1895003578 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 23, Autosomal dominant nonsyndromic hearing loss 23 |
| RS2140241235 | Health Risk | Likely pathogenic | Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss, Branchiootic syndrome 3 |
| RS2502639357 | Health Risk | Likely pathogenic | Branchiootic syndrome 3, Branchiootic syndrome 3 |
| RS2502643576 | Health Risk | Likely pathogenic | Melnick-Fraser syndrome, Melnick-Fraser syndrome |
| RS2502643915 | Health Risk | Likely pathogenic | Branchiootic syndrome 3, Branchiootic syndrome 3 |
| RS761906849 | Health Risk | Likely pathogenic | Branchiootic syndrome 3, Branchiootic syndrome 3 |
| RS863223330 | Health Risk | Likely pathogenic | Branchiootic syndrome 3, Branchiootic syndrome 3 |
| RS121909770 | Health Risk | Pathogenic | Branchiootic syndrome 3, Branchiootic syndrome 3 |
| RS1303947821 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 23, Autosomal dominant nonsyndromic hearing loss 23 |
| RS2502644085 | Health Risk | Pathogenic | Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3 |
| RS2502644174 | Health Risk | Pathogenic | Branchiootic syndrome 3, Branchiootic syndrome 3 |
| RS80356459 | Health Risk | Pathogenic | Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3 |
| RS797044960 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23 |
| RS80356460 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23 |