ClinGen Dosage Sensitivity Curation Page

ROR2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000009.11) (NC_000009.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Oldridge et al. 2000 (PMID 10700182) describe 2 nonsense and 1 frameshift mutation in ROR2 as the cause of the patient's brachydactyly type B (BDB). The authors suggest that the mutations result in a gain of function of the protein. This hypothesis is supported by the observation that two individuals with het dels of 9q22 including ROR2 do not have BDB. Since loss of function is not the mechanism of these mutations (rather, gain of function is the mutation mechanism), this gene has been given a score of 0. Loss of function mutations are associated with autosomal recessive Robinow syndrome (OMIM 268310).

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