GLI3 Chromosome 7
GLI family zinc finger 3
Upload your DNA to see your personal genotypes for variants in GLI3.
What This Gene Does
This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
7p14.1
Ensembl
ENSG00000106571
Associated Conditions (26)
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polydactyly
Inborn genetic diseases
Hirschsprung disease
susceptibility to
1
Polysyndactyly 4
postaxial
type A1
GLI3-related disorder
8 conditions
Congenital hypothalamic hamartoma syndrome
Intellectual disability
Familial cancer of breast
Hepatoblastoma
Postaxial polydactyly type B
Postaxial polydactyly type A
Hand polydactyly
Postaxial polydactyly
+6 more conditions
Key Variants
RS1057524835
Conflicting classifications of pathogenicity
Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
Health Risk
RS117987369
Conflicting classifications of pathogenicity
Greig cephalopolysyndactyly syndrome, Polydactyly, Greig cephalopolysyndactyly syndrome
Health Risk
RS1182112270
Conflicting classifications of pathogenicity
Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Inborn genetic diseases
Health Risk
RS121917716
Conflicting classifications of pathogenicity
Greig cephalopolysyndactyly syndrome, Hirschsprung disease, susceptibility to
Health Risk
RS1226324102
Conflicting classifications of pathogenicity
Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Inborn genetic diseases
Health Risk
RS1244511121
Conflicting classifications of pathogenicity
Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome, Inborn genetic diseases
Health Risk
RS1328292775
Conflicting classifications of pathogenicity
Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
Health Risk
RS1345463284
Conflicting classifications of pathogenicity
Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Inborn genetic diseases
Health Risk
RS1355649064
Conflicting classifications of pathogenicity
Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome, Polysyndactyly 4
Health Risk
RS1359183911
Conflicting classifications of pathogenicity
Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Polydactyly
Health Risk
RS1372552953
Conflicting classifications of pathogenicity
Inborn genetic diseases, Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
Health Risk
RS1374541235
Conflicting classifications of pathogenicity
Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome, Polysyndactyly 4
Health Risk
All Variants (284)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2128710024 | Health Risk | Likely pathogenic | Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome |
| RS2128712297 | Health Risk | Likely pathogenic | Polydactyly, postaxial, type A1 |
| RS2128712794 | Health Risk | Likely pathogenic | Hand polydactyly, Hand polydactyly |
| RS2128738764 | Health Risk | Likely pathogenic | Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome |
| RS2128741200 | Health Risk | Likely pathogenic | Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome |
| RS2484361638 | Health Risk | Likely pathogenic | GLI3-related disorder, GLI3-related disorder |
| RS2484363262 | Health Risk | Likely pathogenic | Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome |
| RS2484368670 | Health Risk | Likely pathogenic | — |
| RS2484369783 | Health Risk | Likely pathogenic | — |
| RS2484371899 | Health Risk | Likely pathogenic | GLI3-related disorder, GLI3-related disorder |
| RS2484378113 | Health Risk | Likely pathogenic | Greig cephalopolysyndactyly syndrome, Polydactyly, postaxial |
| RS2484380066 | Health Risk | Likely pathogenic | GLI3-related disorder, GLI3-related disorder |
| RS2484390976 | Health Risk | Likely pathogenic | Greig cephalopolysyndactyly syndrome, Polydactyly, postaxial |
| RS2484638597 | Health Risk | Likely pathogenic | GLI3-related disorder, GLI3-related disorder |
| RS2484647959 | Health Risk | Likely pathogenic | Greig cephalopolysyndactyly syndrome, Polydactyly, postaxial |
| RS2484805385 | Health Risk | Likely pathogenic | Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome |
| RS2484805390 | Health Risk | Likely pathogenic | Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome |
| RS780256503 | Health Risk | Likely pathogenic | GLI3-related disorder, GLI3-related disorder |
| RS1057518698 | Health Risk | Pathogenic | Polydactyly, postaxial, type A1 |
| RS1060499558 | Health Risk | Pathogenic | Polydactyly, postaxial, type A1 |
| RS1064793685 | Health Risk | Pathogenic | — |
| RS116840743 | Health Risk | Pathogenic | Pallister-Hall syndrome, Pallister-Hall syndrome |
| RS116840744 | Health Risk | Pathogenic | Pallister-Hall syndrome, Pallister-Hall syndrome |
| RS116840751 | Health Risk | Pathogenic | — |
| RS116840754 | Health Risk | Pathogenic | Pallister-Hall syndrome, Pallister-Hall syndrome |
| RS116840766 | Health Risk | Pathogenic | Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome |
| RS116840767 | Health Risk | Pathogenic | Pallister-Hall syndrome, Pallister-Hall syndrome |
| RS116840768 | Health Risk | Pathogenic | Pallister-Hall syndrome, Pallister-Hall syndrome |
| RS116840770 | Health Risk | Pathogenic | Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome |
| RS121917709 | Health Risk | Pathogenic | Postaxial polydactyly, type A1/B, Abnormality of prenatal development or birth |
| RS121917711 | Health Risk | Pathogenic | Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome |
| RS121917713 | Health Risk | Pathogenic | Polysyndactyly 4, Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome |
| RS121917714 | Health Risk | Pathogenic | Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Polydactyly |
| RS121917715 | Health Risk | Pathogenic | Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome |
| RS1347050404 | Health Risk | Pathogenic | — |
| RS1356013382 | Health Risk | Pathogenic | Polysyndactyly 4, Polysyndactyly 4 |
| RS1366557334 | Health Risk | Pathogenic | Polydactyly, postaxial, type A1 |
| RS1375768446 | Health Risk | Pathogenic | Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Polydactyly |
| RS148043302 | Health Risk | Pathogenic | Pallister-Hall syndrome, Polydactyly, Greig cephalopolysyndactyly syndrome |
| RS151222023 | Health Risk | Pathogenic | Polysyndactyly 4, Polysyndactyly 4 |
| RS1554304247 | Health Risk | Pathogenic | — |
| RS1554304380 | Health Risk | Pathogenic | Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome |
| RS1554306031 | Health Risk | Pathogenic | — |
| RS1554306093 | Health Risk | Pathogenic | Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome |
| RS1554306094 | Health Risk | Pathogenic | Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome |
| RS1554314581 | Health Risk | Pathogenic | — |
| RS1554314595 | Health Risk | Pathogenic | — |
| RS1554315071 | Health Risk | Pathogenic | — |
| RS1554317931 | Health Risk | Pathogenic | Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome |
| RS1562656759 | Health Risk | Pathogenic | Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome |