Variant: rs181969865 

    present in Gene: TBCD
    present in Chromosome: 17
    Position on Chromosome: 82924992
    Alleles of this Variant: C/T

rs181969865 in TBCD gene and ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM PMID 28158450 2016 Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.

PMID 27807845 2017 Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.

PMID 27666370 2016 Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.

PMID 27666374 2016 Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.