SYNDIG1

Chr 20

synapse differentiation inducing 1

Also known as: C20orf39, DSPC2, IFITMD5, TMEM90B

NCBI Gene: 79953 ENSG00000101463 UniProt: Q9H7V2

This gene encodes a transmembrane protein that regulates AMPA receptor content at developing synapses and plays a role in postsynaptic development and maturation. Mutations cause autosomal recessive intellectual disability with seizures and language delay, typically presenting in early childhood. The gene shows moderate tolerance to loss-of-function variants.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein that belongs to the interferon-induced transmembrane family of proteins. A similar protein in rat is thought to regulate the development of excitatory synapses. [provided by RefSeq, Jul 2013]

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)

—

P/LP submissions

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P/LP missense

0.77

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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