NEK1
Chr 4ARADDigenic recessiveNIMA related kinase 1
Also known as: ALS24, NY-REN-55, OFD2, SRPS2, SRPS2A, SRTD6
NEK1 encodes a serine/threonine kinase that functions in DNA damage repair, cell cycle regulation, and cilium assembly. Mutations cause short-rib thoracic dysplasia with or without polydactyly, orofaciodigital syndrome type II, and contribute to amyotrophic lateral sclerosis susceptibility, with inheritance patterns including autosomal recessive, autosomal dominant, and digenic recessive depending on the condition. The gene shows very low constraint against loss-of-function variants, consistent with its association with recessive developmental disorders affecting skeletal development and ciliary function.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NEK1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools