SOX11

Chr 2AD

SRY-box transcription factor 11

Also known as: CSS9, IDDMOH, MRD27

NCBI Gene: 6664 ENSG00000176887 UniProt: P35716 OMIM: 600898

SOX11 encodes a transcription factor that binds to gene promoters to activate transcription and plays a critical role in cell survival during development of the neural tube, branchial arches, and somites. Mutations cause autosomal dominant intellectual developmental disorder with microcephaly and variable features including ocular malformations or hypogonadotropic hypogonadism. The gene is highly constrained against loss-of-function variants, reflecting its essential role in neurodevelopment.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadismMIM #615866

Clinical highlights

Gene-disease validity (ClinGen)

SOX11-related complex neurodevelopmental disorder with or without congenital anomalies · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

100

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.44

LOEUF

LOF

Mechanism· predicted

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