ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000004.11) (NC_000004.12)

Haploinsufficiency phenotype comments:

Mutations in NEK1 are associated with short-rib polydactyly syndrome type IIA, or Majewski type, a condition inherited in an autosomal recessive manner. Most reported cases have involved consanguineous families and have thus had homozygous mutations in NEK1. From OMIM #263520: "Another form of short rib-polydactyly syndrome type II (Majewski syndrome), here designated IIB (615087), is caused by mutation in the DYNC2H1 (603297) gene on chromosome 11q13. There is also evidence that short rib-polydactyly type II can be caused by digenic biallelic mutation in the NEK1 and DYNC2H1 genes." For additional information, please also see OMIM #604588.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity