FILIP1

Chr 6

filamin A interacting protein 1

Also known as: FILIP, NMDF

NCBI Gene: 27145 ENSG00000118407 UniProt: Q7Z7B0

This protein binds to and promotes degradation of filamin A, regulating cortical neuron migration and dendritic spine morphology during brain development. Biallelic mutations cause autosomal recessive congenital neuromuscular disorder with dysmorphic facial features. The gene is not highly constrained against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a filamin A binding protein. The encoded protein promotes the degradation of filamin A and may regulate cortical neuron migration and dendritic spine morphology. Mice lacking a functional copy of this gene exhibit reduced dendritic spine length and altered excitatory signaling. [provided by RefSeq, Oct 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeuromuscular disorder, congenital, with dysmorphic facies

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.70

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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