ClinGen Dosage Sensitivity Curation Page

LIMK1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000007.13) (NC_000007.14)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

While haploinsufficiency for LIMK1 alone has not been demonstrated, deletions involving the larger 7q11.23 region cause the contiguous gene deletion disorder, Williams-Beuren syndrome (WBS) (MIM #194050). Studies of patients with partial deletions of the WBS region and a mouse knockout model initially suggested that LIMK1 hemizygosity may be responsible for the visuospatial impairments of WBS, however more recent studies of partial deletion patients do not support this hypothesis [see PMID 19662944].

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

Triplosensitivity phenotype comment:

LIMK1 is duplicated in the chromosome 7q11.23 microduplication syndrome (MIM #609757), however it is not known whether increased gene dosage contributes to any of the associated phenotypes; focal LIMK1 duplication has not been reported.