NEXMIF (neurite extension and migration factor)

2017-09-01 Affiliation

HGNC

NEXMIF

LOCATION

Xq13.3

LOCUSID

340533

ALIAS

KIAA2022,KIDLIA,MRX98,XPN

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Not detected

Low

Medium

High

Pubmed ID	Year	Title
15466006	2004	Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males.
23615299	2013	Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
24071057	2013	XLMR protein related to neurite extension (Xpn/KIAA2022) regulates cell-cell and cell-matrix adhesion and migration.
25900396	2015	Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.
27358180	2016	De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
27568816	2017	De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.
29693785	2018	Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature.
29717186	2018	Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.

Dessen P

NEXMIF (neurite extension and migration factor)

Atlas Genet Cytogenet Oncol Haematol. 2017-09-01