ClinGen Dosage Sensitivity Curation Page

See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.


  • Curation Status: Complete

Location Information

Select assembly: (NC_000007.13) (NC_000007.14)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype

Haploinsufficiency phenotype comments:

Homozygous loss-of-function mutations in RELN are associated with an autosomal recessive form of lissencephaly; Lissencephaly 2 (Norman-Roberts type) [MIM #257320]. DECIPHER clinical database entry of a de novo ~120 kb intragenic RELN deletion in a patient with lissencephaly/pachygyria, MR/DD, and a wide forehead and no other copy number alterations. PMID21841781: In a study comparing a large cohort of children with ID and/or DD to unaffected adult controls, there is one intragenic deletion in the cases. No phenotypic information was provided.

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