SOX11 Chromosome 2
SRY-box transcription factor 11
Upload your DNA to see your personal genotypes for variants in SOX11.
What This Gene Does
This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
SRY-box transcription factors
Locus Type
gene with protein product
Location
2p25.2
Ensembl
ENSG00000176887
Associated Conditions (6)
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism
Inborn genetic diseases
SOX11-related disorder
Coffin-Siris syndrome
Craniosynostosis syndrome
Key Variants
RS1042297449
Conflicting classifications of pathogenicity
Health Risk
RS1064794628
Conflicting classifications of pathogenicity
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
Health Risk
RS1251597664
Conflicting classifications of pathogenicity
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
Health Risk
RS1297634063
Conflicting classifications of pathogenicity
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Inborn genetic diseases, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
Health Risk
RS140772793
Conflicting classifications of pathogenicity
SOX11-related disorder, SOX11-related disorder
Health Risk
RS1469878578
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hypogonadotropic hypogonadism, Inborn genetic diseases
Health Risk
RS1665660543
Conflicting classifications of pathogenicity
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
Health Risk
RS2103276343
Conflicting classifications of pathogenicity
Health Risk
RS2465087778
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
Health Risk
RS2465088788
Conflicting classifications of pathogenicity
SOX11-related disorder, SOX11-related disorder
Health Risk
RS377528494
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Inborn genetic diseases
Health Risk
RS544581532
Conflicting classifications of pathogenicity
SOX11-related disorder, Hypogonadotropic hypogonadism, SOX11-related disorder
Health Risk
All Variants (77)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1042297449 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1064794628 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS1251597664 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS1297634063 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Inborn genetic diseases, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS140772793 | Health Risk | Conflicting classifications of pathogenicity | SOX11-related disorder, SOX11-related disorder |
| RS1469878578 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hypogonadotropic hypogonadism, Inborn genetic diseases |
| RS1665660543 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS2103276343 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2465087778 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism |
| RS2465088788 | Health Risk | Conflicting classifications of pathogenicity | SOX11-related disorder, SOX11-related disorder |
| RS377528494 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Inborn genetic diseases |
| RS544581532 | Health Risk | Conflicting classifications of pathogenicity | SOX11-related disorder, Hypogonadotropic hypogonadism, SOX11-related disorder |
| RS564494780 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS748010810 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS749826506 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism, Inborn genetic diseases, Hypogonadotropic hypogonadism |
| RS749901648 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Coffin-Siris syndrome, Inborn genetic diseases |
| RS750390370 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751221446 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752975676 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Inborn genetic diseases |
| RS758958162 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism |
| RS766041973 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS769259145 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism |
| RS774530705 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057518282 | Health Risk | Likely pathogenic | — |
| RS1064794702 | Health Risk | Likely pathogenic | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, SOX11-related disorder, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS1215459755 | Health Risk | Likely pathogenic | SOX11-related disorder, SOX11-related disorder |
| RS1441654871 | Health Risk | Likely pathogenic | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS1553327809 | Health Risk | Likely pathogenic | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS1553327863 | Health Risk | Likely pathogenic | — |
| RS1553327990 | Health Risk | Likely pathogenic | — |
| RS1553328038 | Health Risk | Likely pathogenic | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS1558373252 | Health Risk | Likely pathogenic | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS1558373293 | Health Risk | Likely pathogenic | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS1572216329 | Health Risk | Likely pathogenic | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS1572217107 | Health Risk | Likely pathogenic | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS1665661722 | Health Risk | Likely pathogenic | — |
| RS1665662335 | Health Risk | Likely pathogenic | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS1665680497 | Health Risk | Likely pathogenic | — |
| RS2103276324 | Health Risk | Likely pathogenic | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS2103276330 | Health Risk | Likely pathogenic | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS2103276337 | Health Risk | Likely pathogenic | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS2103276364 | Health Risk | Likely pathogenic | Craniosynostosis syndrome, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS2103276750 | Health Risk | Likely pathogenic | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS2465087380 | Health Risk | Likely pathogenic | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS2465087382 | Health Risk | Likely pathogenic | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, SOX11-related disorder, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS2465087392 | Health Risk | Likely pathogenic | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS2465087396 | Health Risk | Likely pathogenic | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS2465087399 | Health Risk | Likely pathogenic | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS2465087401 | Health Risk | Likely pathogenic | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS2465087402 | Health Risk | Likely pathogenic | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |