rs776856952

This variant is located in the GLDN gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

Inborn genetic diseases; Lethal congenital contracture syndrome 11

About GLDN

This gene encodes a protein that contains olfactomedin-like and collagen-like domains. The encoded protein, which exists in both transmembrane and secreted forms, promotes formation of the nodes of Ranvier in the peripheral nervous system. Mutations in this gene cause a form of lethal congenital contracture syndrome in human patients. Autoantibodies to the encoded protein have been identified in sera form patients with multifocal motor neuropathy. [provided by RefSeq, May 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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