ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000007.13) (NC_000007.14)

Haploinsufficiency phenotype comments:

Heterozygous deletion and certain sequence-level mutations of ELN cause supravalvular aortic stenosis (SVAS) by a pathogenic mechanism of haploinsufficiency. See MIM ID#185500 and MIM#130160 for summary of literature specific to haploinsufficiency of ELN and SVAS. Haploinsufficiency for ELN also contributes to the vascular and connective tissue abnormalities observed in the 7q11.23 contiguous gene deletion disorder, Williams-Beuren syndrome (WBS)(MIM #194050).

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

Triplosensitivity phenotype comment:

ELN 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 ELN duplication has not been reported. Intragenic duplication and certain sequence-level mutations of ELN can cause autosomal dominant cutis laxa (MIM #123700 and MIM#130160) by a dominant-negative mechanism of pathogenesis.