SDCCAG8 Chromosome 1
SHH signaling and ciliogenesis regulator SDCCAG8
Upload your DNA to see your personal genotypes for variants in SDCCAG8.
What This Gene Does
This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
1q43-q44
Ensembl
ENSG00000054282
Associated Conditions (11)
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Focal segmental glomerulosclerosis
SDCCAG8-related disorder
Bardet-Biedl syndrome
Kidney disorder
Retinal dystrophy
Sarcoma
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Renal dysplasia and retinal aplasia
Key Variants
RS1033766338
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Focal segmental glomerulosclerosis
Health Risk
RS118064970
Conflicting classifications of pathogenicity
Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, SDCCAG8-related disorder
Health Risk
RS12080579
Conflicting classifications of pathogenicity
Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
Health Risk
RS138449445
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
Health Risk
RS140413256
Conflicting classifications of pathogenicity
Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Bardet-Biedl syndrome
Health Risk
RS143226730
Conflicting classifications of pathogenicity
Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
Health Risk
RS143407309
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, SDCCAG8-related disorder
Health Risk
RS146474568
Conflicting classifications of pathogenicity
Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, SDCCAG8-related disorder
Health Risk
RS148818431
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
Health Risk
RS149359674
Conflicting classifications of pathogenicity
Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, SDCCAG8-related disorder
Health Risk
RS150070966
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, SDCCAG8-related disorder
Health Risk
RS150646039
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, SDCCAG8-related disorder
Health Risk
All Variants (82)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201658593 | Health Risk | Pathogenic | Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7 |
| RS2072310236 | Health Risk | Pathogenic | Bardet-Biedl syndrome 16, Bardet-Biedl syndrome 16 |
| RS2073290478 | Health Risk | Pathogenic | Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7 |
| RS2074519196 | Health Risk | Pathogenic | Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7 |
| RS2080721288 | Health Risk | Pathogenic | Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7 |
| RS2149263988 | Health Risk | Pathogenic | Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7 |
| RS2528047823 | Health Risk | Pathogenic | Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7 |
| RS2547828052 | Health Risk | Pathogenic | Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16 |
| RS2547859493 | Health Risk | Pathogenic | Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7 |
| RS2547885939 | Health Risk | Pathogenic | Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16 |
| RS2547886035 | Health Risk | Pathogenic | Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16 |
| RS267607031 | Health Risk | Pathogenic | Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16 |
| RS387906218 | Health Risk | Pathogenic | Senior-Loken syndrome 7, Senior-Loken syndrome 7 |
| RS397515335 | Health Risk | Pathogenic | Senior-Loken syndrome 7, Bardet-Biedl syndrome, Bardet-Biedl syndrome 16 |
| RS397515336 | Health Risk | Pathogenic | Senior-Loken syndrome 7, Senior-Loken syndrome 7 |
| RS587777846 | Health Risk | Pathogenic | Bardet-Biedl syndrome 16, Bardet-Biedl syndrome 16 |
| RS587777847 | Health Risk | Pathogenic | Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16 |
| RS756518004 | Health Risk | Pathogenic | Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16 |
| RS766013756 | Health Risk | Pathogenic | Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, SDCCAG8-related disorder |
| RS766435425 | Health Risk | Pathogenic | Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, SDCCAG8-related disorder |
| RS768207230 | Health Risk | Pathogenic | Inborn genetic diseases, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16 |
| RS778900414 | Health Risk | Pathogenic | Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7 |
| RS797045946 | Health Risk | Pathogenic | Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7 |
| RS797045947 | Health Risk | Pathogenic | Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, SDCCAG8-related disorder |
| RS1286714661 | Health Risk | Pathogenic/Likely pathogenic | Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Bardet-Biedl syndrome |
| RS1390963789 | Health Risk | Pathogenic/Likely pathogenic | Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Bardet-Biedl syndrome |
| RS397515337 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome |
| RS767375284 | Health Risk | Pathogenic/Likely pathogenic | Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7 |
| RS770084716 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, SDCCAG8-related disorder |
| RS772544112 | Health Risk | Pathogenic/Likely pathogenic | Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Bardet-Biedl syndrome |
| RS797045948 | Health Risk | Pathogenic/Likely pathogenic | Senior-Loken syndrome 7, Bardet-Biedl syndrome, Bardet-Biedl syndrome 16 |
| RS964673995 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, SDCCAG8-related disorder |