ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype

Haploinsufficiency phenotype comments:

Mutations affecting both copies of LBR are associated with autosomal recessive Greenberg skeletal dysplasia (OMIM 215140). Heterozygous LBR mutations are associated with a benign white blood cell (granulocytic) morphologic phenotype, Pelger-Huet anomaly (PHA, OMIM 169400). There has been a single report of a missense variant in this gene in an individual with Reynolds syndrome, but the authors propose that the variant resulted in a dominant negative effect (PMID: 20522425).

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