ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000008.10) (NC_000008.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: COHEN SYNDROME; COH1

Haploinsufficiency phenotype comments:

The Database of Genomic Variants shows a deletion in one subject in each of three studies. Balikova I et al. 2011 PMID: 21353197 A patient clinically diagnosed with Cohen syndrome has 140 kb homozygous deletion. Both heterozygous parents were reported as normal. Rivera-Brugu?s N et al. 2011 PMID: 20921020 Performed genomic copy number analysis on 1523 patients with unexplained intellectual disability and found 3 heterozygous deletions affecting VPS13B in 3 individuals. Subsequent sequence analysis showed damaging mutations on the other allele, consistent with a diagnosis of autosomal recessive Cohen syndrome. Parental follow-up studies showed five healthy parents who were carriers of loss of function mutations of VPS13B, including one parent with a deletion of exons 1 to 17.

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

Triplosensitivity phenotype comment:

No evidence of triplosensitivity found at the time of this review.