ClinGen Dosage Sensitivity Curation Page

ORC4

  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: MEIER-GORLIN SYNDROME 2; MGORS2

Haploinsufficiency phenotype comments:

Variants in ORC4 have been associated with Meier-Gorlin syndrome 2, an autosomal recessive disorder.

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