ClinGen Dosage Sensitivity Curation Page

DHCR7

  • Curation Status: Complete

Location Information

Select assembly: (NC_000011.9) (NC_000011.10)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: SMITH-LEMLI-OPITZ SYNDROME; SLOS

Haploinsufficiency phenotype comments:

Homozygous loss of function mutations in DHCR7 cause Smith-Lemli-Opitz syndrome, an autosomal recessive condition.

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