ClinGen Dosage Sensitivity Curation Page


  • 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: LISSENCEPHALY 2; LIS2

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