ClinGen Dosage Sensitivity Curation Page
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RELN
- Curation Status: Complete
- id: ISCA-4467
- Date last evaluated: 2012-08-26
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about RELN at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/5649
- OMIM: https://omim.org/entry/600514
- ClinGen Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 1.0
- 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