ELFN1

Chr 7

extracellular leucine rich repeat and fibronectin type III domain containing 1

Also known as: DONDS, PPP1R28

NCBI Gene: 392617 ENSG00000225968 UniProt: P0C7U0

ELFN1 encodes a postsynaptic protein that regulates synaptic transmission by inhibiting protein phosphatase 1 activity and modulating interneuron circuit dynamics in the central nervous system. Mutations cause autosomal recessive intellectual disability with seizures, typically presenting in early childhood. This gene is highly constrained against loss-of-function variants (pLI 0.999, LOEUF 0.153), indicating that complete loss of function is poorly tolerated.

ResearchSummary from RefSeq, UniProt

Predicted to enable signaling receptor activity. Predicted to be involved in chemical synaptic transmission and synapse organization. Predicted to act upstream of or within several processes, including synapse assembly; synaptic signaling; and visual perception. Predicted to be located in dendrite and excitatory synapse. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDursun-Ozgul neurodevelopmental syndrome

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.15

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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