NEXMIF

Chr X

neurite extension and migration factor

Also known as: KIAA2022, KIDLIA, MRX98, XLID98, XPN

NCBI Gene: 340533 ENSG00000050030 UniProt: Q5QGS0

The NEXMIF protein localizes to the nucleus and mutations cause X-linked intellectual developmental disorder (XLID-98) with an X-linked dominant inheritance pattern. Mutations predominantly cause disease through loss-of-function mechanisms, with the gene showing high intolerance to loss-of-function variants (pLI 0.999, LOEUF 0.198), indicating haploinsufficiency is likely pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked cognitive disability.[provided by RefSeq, Mar 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, X-linked 98

Clinical highlights

Gene-disease validity (ClinGen)

X-linked complex neurodevelopmental disorder · XLDefinitivesufficient evidence for diagnostic panels

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

0.20

LOEUF· LoF intol.

LOF

Mechanism· G2P

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