ClinGen Dosage Sensitivity Curation Page

LMNB1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000005.9) (NC_000005.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Evidence for gain of function phenotype
PubMed ID Description
19151023 Paper describes one proband with a duplication of LMNB1 and phenotype of adult-onset leucoencephalopathy
21225301 Paper describes four unrelated probands with a duplication of LMNB1 and phenotype of adult-onset leucoencephalopathy