KIF26A

Chr 14AR

kinesin family member 26A

Also known as: CDCBM11

Predicted to enable microtubule binding activity. Involved in cerebral cortex development; regulation of neuron migration; and regulation of neuron projection development. Predicted to be located in cytosol. Implicated in complex cortical dysplasia with other brain malformations. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
DNmechanismARLOEUF 0.471 OMIM phenotype
Clinical SummaryKIF26A
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Gene-Disease Validity (ClinGen)
complex cortical dysplasia with other brain malformations · ARStrong

Strong evidence — appropriate for clinical testing

Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.31) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.47LOEUF
pLI 0.001
Z-score 4.62
OE 0.31 (0.210.47)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.09Z-score
OE missense 0.99 (0.941.04)
1119 obs / 1127.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.31 (0.210.47)
00.351.4
Missense OE?0.99 (0.941.04)
00.61.4
Synonymous OE?1.14
01.21.6
LoF obs/exp: 16 / 51.9Missense obs/exp: 1119 / 1127.4Syn Z: -2.46

This gene — mechanism propensity

DN
0.6647th %ile
GOF
0.6052th %ile
LOF
0.4726th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

KIF26A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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