SNED1

Chr 2

sushi, nidogen and EGF like domains 1

Also known as: IRE-BP1, SST3, Snep

NCBI Gene: 25992 ENSG00000162804 UniProt: Q8TER0 OMIM: 616634

The protein is predicted to bind Notch and participate in cell-matrix adhesion within the extracellular matrix. Mutations cause malformation of cortical development with oligogyria, an autosomal recessive disorder characterized by severe intellectual disability and brain malformations with reduced cortical folding. The gene shows high constraint against loss-of-function variants (LOEUF 0.332), consistent with its role in critical neurodevelopmental processes.

OMIM ResearchSummary from RefSeq

Predicted to enable Notch binding activity. Predicted to be involved in cell-matrix adhesion. Located in extracellular matrix. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical highlights

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.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.33

LOEUF· LoF intol.

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Mechanism